Nervous System Neoplasms - 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 Neoplasms	go back to main search page
Accession:	DOID:9006557	browse the term
Definition:	Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms.
Synonyms:	exact_synonym:	Nervous System Neoplasm; Nervous System Tumor; neoplasm of nervous system; nervous system tumors; neural neoplasm; neural tumor; tumor of the nervous system; tumors of the nervous system
	primary_id:	MESH:D009423

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Rat (1710) Mouse (1685) Human (30276) Chinchilla (1451) Bonobo (1552) Dog (1570) Squirrel (1472) Pig (1529) Green Monkey (1518) Naked Mole-rat (1442) All
Genes (1529)

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:

NCBI chr 6:167,356,363...167,361,370
Ensembl chr 6:167,357,662...167,360,729

G

brain derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765

G

caveolin 1

NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465

G

cyclin dependent kinase inhibitor 1A

mRNA,protein:decreased expression:myelinated nerve:

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761

G

cytochrome P450 family 2 subfamily E member 1

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

NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

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

NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

G

fibroblast growth factor receptor 1

disease_progression

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

glial cell derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536

G

insulin like growth factor 1

susceptibility

protein:increased expression:serum:

NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033

G

insulin like growth factor binding protein 3

susceptibility

protein:increased expression:serum:

NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690

G

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

protein:decreased expression:myelinated nerve:

NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

vascular endothelial growth factor A

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

ACTH-secreting pituitary adenoma

term browser

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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, acth-secreting, somatic

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

NCBI chr 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781

G

vasopressin receptor 1B

NCBI chr 9:66,769,472...66,776,916
Ensembl chr 9:66,772,591...66,776,931

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637

G

ubiquitin specific peptidase 8

NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,032...121,413,223

Adult Cerebral Astrocytoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 1

susceptibility

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

NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076

adult pineal parenchymal tumor

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

marker of proliferation Ki-67

severity

NCBI chr14:137,266,622...137,296,312

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 chr17:44,048,056...44,265,472
Ensembl chr17:44,048,098...44,265,431

anaplastic astrocytoma

term browser

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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:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

tumor protein p53

ClinVar Annotator: match by term: Astrocytoma, anaplastic

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

anaplastic ependymoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Anaplastic ependymoma

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

NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834

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 chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

anaplastic oligodendroglioma

term browser

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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 6:49,638,986...49,664,146
Ensembl chr 6:49,638,990...49,662,947

Anti-N-Methyl-D-Aspartate Receptor Encephalitis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurofilament heavy chain

treatment

NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088

G

neurofilament light chain

treatment

NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112

arteriovenous malformations of the brain

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

OMIM:108010

NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,268,130...17,286,276

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation

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

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

calcium voltage-gated channel subunit alpha1 H

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:25741868 PMID:28492532

NCBI chr 3:40,637,420...40,694,616
Ensembl chr 3:40,637,427...40,695,177

G

cadherin 2

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

endoglin

disease_progression

DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215

NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783

G

fms related receptor tyrosine kinase 1

protein:increased expression:endothelial cell:

NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264

G

GLI family zinc finger 2

ClinVar Annotator: match by term: Arteriovenous malformations of the brain

NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306

G

interleukin 17 receptor D

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901

NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690

G

interleukin 6

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

kinase insert domain receptor

protein:increased expression:endothelial cell:

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More...

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

LEM domain containing 3

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875

G

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 3:52,483,028...52,649,480
Ensembl chr 3:52,484,274...52,649,410

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228

G

notch receptor 4

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:25741868 PMID:27231971

NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281

G

programmed cell death 10

ClinVar Annotator: match by term: Arteriovenous malformations of the brain

PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More...

NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895

G

PITPNM family member 3

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr12:50,806,302...50,898,316
Ensembl chr12:50,742,773...50,898,331

G

phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044

G

seryl-tRNA synthetase 1

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,089...110,874,815

G

signal peptide, CUB domain and EGF like domain containing 2

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 9:389,806...457,651

G

synapsin III

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 5:12,017,741...12,501,995
Ensembl chr 5:12,473,793...12,500,076

G

TIMP metallopeptidase inhibitor 3

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581

G

vascular endothelial growth factor A

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

zinc finger FYVE-type containing 16

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 2:89,044,860...89,109,237
Ensembl chr 2:89,045,362...89,106,975

astroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microRNA mir-542

disease_progression

NCBI chr X:110,382,597...110,382,676
Ensembl chr X:110,382,597...110,382,676

G

phosphoinositide-3-kinase regulatory subunit 1

severity

PMID:26286747 PMID:26956052

RGD:11343921 RGD:13782052

NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609

astroblastoma, MN1-altered

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: Astroblastoma, MN1-altered

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

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552

G

chromosome 9 C11orf65 homolog

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

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

NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710

G

TSC complex subunit 2

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

PMID:25741868 PMID:28492532

NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371

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:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

derlin 3

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

NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,672

G

glypican 3

protein:increased expression:brain (human)

NCBI chr X:109,536,495...109,973,605
Ensembl chr X:109,536,504...109,973,607

G

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

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

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

NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048

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 chr12:21,784,410...21,807,170
Ensembl chr12:21,786,897...21,807,162

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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552

G

heterogeneous nuclear ribonucleoprotein L

susceptibility

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

NCBI chr 6:47,643,561...47,655,856
Ensembl chr 6:47,643,566...47,657,833

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Brain cancer

PMID:25741868 PMID:28492532

NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327

G

telomerase reverse transcriptase

ameliorates

DNA:SNP:cds:rs2736100 (human)

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

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)

NCBI chr 2:74,746,541...74,756,687
Ensembl chr 2:74,747,080...74,756,680

G

microRNA mir-139

RNA:decreased expression:brain:

NCBI chr 9:7,175,314...7,175,381
Ensembl chr 9:7,175,308...7,175,385

G

neural cell adhesion molecule 1

disease_progression

NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591

G

SUFU negative regulator of hedgehog signaling

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

NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003

brain glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 associated X, apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140

G

BCL2 apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:brain (human)

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

bone marrow stromal cell antigen 2

mRNA,protein:increased expression:brain:

NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697

G

caspase 3

treatment

NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213

G

Fas associated via death domain

treatment

NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818

G

Fas cell surface death receptor

treatment

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

Fas ligand

treatment

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

forkhead box A1

disease_progression

NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220

G

glyceraldehyde-3-phosphate dehydrogenase

NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991

G

kinase insert domain receptor

protein:increased expression:brain (human)

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

microRNA mir-21

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

NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358

G

NLR family apoptosis inhibitory protein

exacerbates

mRNA:increased expression:brain (human)

NCBI chr16:47,700,869...47,710,036

G

protein tyrosine phosphatase receptor type B

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

PMID:16923162 PMID:33900414

RGD:151660356 RGD:151660368

NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289

G

vascular endothelial growth factor A

protein:increased expression:brain (human)

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

G

X-ray repair cross complementing 3

susceptibility

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

Brain Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acrosin binding protein

ClinVar Annotator: match by term: Neoplasm of brain

NCBI chr 5:64,036,810...64,047,846
Ensembl chr 5:64,037,095...64,047,847

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Neoplasm of brain

PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:21242967 More...

NCBI chr 3:109,411,146...110,105,755

G

angiomotin

CTD Direct Evidence: marker/mechanism

NCBI chr X:92,581,995...92,647,872
Ensembl chr X:92,582,047...92,647,857

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Malignant brain neoplasm

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Brain Neoplasms

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

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

cyclin D1

CTD Direct Evidence: marker/mechanism

PMID:20932960 PMID:27935819

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin dependent kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

PMID:15144691 PMID:16860786

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

catenin beta 1

ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain

PMID:25157968 PMID:26619011 PMID:26822237

NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350

G

delta like canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,815...211,346
Ensembl chr 1:199,358...211,346

G

deltex E3 ubiquitin ligase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,880,586...9,925,866
Ensembl chr 3:9,888,561...9,925,850

G

deoxyuridine triphosphatase

severity

protein:increased expression:tumor (human)

NCBI chr 1:123,451,207...123,462,267
Ensembl chr 1:123,450,858...123,462,245

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Neoplasm of brain

PMID:17177598 PMID:26619011 PMID:28492532

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

EMAP like 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:98,005,809...98,155,876
Ensembl chr 3:98,005,812...98,155,846

G

four-jointed box kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:25,420,657...25,423,549
Ensembl chr 2:25,420,667...25,423,166

G

H3.3 histone A

ClinVar Annotator: match by term: Neoplasm of brain

NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,923,077...13,948,484

G

hes family bHLH transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Brain neoplasm
ClinVar Annotator: match by term: Brain Neoplasms

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

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Brain Neoplasms

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

NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

IQ motif containing GTPase activating protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:85,294,423...85,633,645
Ensembl chr 2:85,294,530...85,633,642

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107

G

O-6-methylguanine-DNA methyltransferase

associated with Neoplasm Metastasis; DNA:hypermethylation:promoter (human)
CTD Direct Evidence: marker/mechanism

PMID:19274096 PMID:20131314

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

NOTCH regulated ankyrin repeat protein

CTD Direct Evidence: marker/mechanism

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Brain Neoplasms

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

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

proliferating cell nuclear antigen

CTD Direct Evidence: marker/mechanism

NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744

G

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

ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain

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

NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain

PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011

NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609

G

PMS1 homolog 2, mismatch repair system component

NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain

PMID:9259288 PMID:9399897 PMID:9467011 PMID:9619835 PMID:9856571 More...

NCBI chr14:99,929,590...100,021,619

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain

PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 More...

NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469

G

S100 calcium binding protein B

CTD Direct Evidence: marker/mechanism

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Malignant brain neoplasm

PMID:25741868 PMID:28492532

NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327

G

transforming growth factor beta receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160

G

transglutaminase 2

CTD Direct Evidence: therapeutic

NCBI chr17:41,186,765...41,221,686
Ensembl chr17:41,186,770...41,221,637

G

tumor protein p53

ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain

PMID:124622 PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 More...

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

TSC complex subunit 2

ClinVar Annotator: match by term: Neoplasm of brain

PMID:10205261 PMID:10533067 PMID:10735580 PMID:11208653 PMID:11603814 More...

NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603

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:

NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011

G

platelet derived growth factor receptor alpha

severity

NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441

Brain Stem Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

protein phosphatase, Mg2+/Mn2+ dependent 1D

CTD Direct Evidence: marker/mechanism

NCBI chr12:37,485,601...37,536,159
Ensembl chr12:37,485,588...37,536,146

Carcinoid Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

protein:decreased expression:serum:

NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696

G

enolase 2

NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,930...63,809,410

G

menin 1

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

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

microRNA mir-10a

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730

G

microRNA mir-127

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,709,636...121,709,715
Ensembl chr 7:121,709,640...121,709,720

G

microRNA mir-136

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,711,328...121,711,409
Ensembl chr 7:121,711,325...121,711,414

G

microRNA mir-155

CTD Direct Evidence: marker/mechanism

NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902

G

microRNA mir-193a

CTD Direct Evidence: marker/mechanism

NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048

G

microRNA mir-222

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,571,808...40,571,887
Ensembl chr X:40,571,808...40,571,887

G

microRNA mir-224

CTD Direct Evidence: marker/mechanism

NCBI chr X:123,283,427...123,283,507
Ensembl chr X:123,283,427...123,283,507

G

microRNA mir-30a

CTD Direct Evidence: marker/mechanism

NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933

G

microRNA mir-34c-1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:39,280,278...39,280,357
Ensembl chr 9:39,280,278...39,280,357

G

microRNA mir-432

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,711,137...121,711,216
Ensembl chr 7:121,711,137...121,711,216

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 2:89,230,660...89,255,830

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:21671394 PMID:22126750 PMID:28492532

NCBI chr 5:15,049,827...15,091,622

G

mutS homolog 3

ClinVar Annotator: match by term: Cavernous sinus meningioma

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

NCBI chr 2:89,255,647...89,456,102
Ensembl chr 2:89,250,003...89,453,936

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)

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

G

X-ray repair cross complementing 3

susceptibility

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

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

NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573

G

CD79b molecule

treatment

NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438

G

interleukin 10

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

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

MYD88 innate immune signal transduction adaptor

treatment

NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109

Central Nervous System Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

programmed cell death 10

multiple dural lesions associated with cerebral cavernous malformation 3;DNA:nonsense mutation, splice site mutations, deletion:CDS, intron:multiple (human)

NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895

G

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

ClinVar Annotator: match by term: Neoplasm of the central nervous system

NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654

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 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238

cerebral cavernous malformation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897

G

ankyrin repeat and IBR domain containing 1

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 9:72,184,805...72,328,765
Ensembl chr 9:72,184,815...72,328,763

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:25525273 PMID:25741868 PMID:28492532

NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132

G

cytochrome P450 family 51 subfamily A member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444

G

fms related receptor tyrosine kinase 1

protein:increased expression:endothelial cell:

NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264

G

kinase insert domain receptor

protein:increased expression:endothelial cell:

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

KRIT1 ankyrin repeat containing

susceptibility

ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations

PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More...

NCBI chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661

G

leucine rich repeats and death domain containing 1

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 9:72,094,221...72,142,939
Ensembl chr 9:72,094,065...72,140,882

G

notch receptor 3

ClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:25741868 PMID:28492532

NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344

G

programmed cell death 10

ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More...

NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895

G

paraoxonase 1

susceptibility

DNA:missense mutations:cds:p.L55M, p.Q192R (human)

NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723

G

phosphatase and tensin homolog

protein:decreased expression:brain (human)

NCBI chr14:99,929,590...100,021,619

G

serpin family I member 1

ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110

cerebral cavernous malformation 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRIT1 ankyrin repeat containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders

PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More...

NCBI chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661

G

programmed cell death 10

ClinVar Annotator: match by term: Cerebral cavernous malformation 1

NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895

G

prostaglandin I2 synthase

exacerbates

DNA:silent mutation:CDS:p.L256L (rs5628) (human)

NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300

cerebral cavernous malformation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More...

NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr18:50,385,116...50,394,787

cerebral cavernous malformation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

programmed cell death 10

onset
exacerbates

ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)

OMIM
ClinVar
RGD

PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More...

RGD:401827114 RGD:401827115

NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895

G

serpin family I member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation 3

NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110

Cerebral Cavernous Malformation 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by term: Cerebral cavernous malformation 4

NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome

NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120

Cerebroretinal Microangiopathy with Calcifications and Cysts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Coats plus syndrome

PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More...

NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,185...53,454,096

G

STN1 subunit of CST complex

CTD Direct Evidence: marker/mechanism

NCBI chr14:114,808,217...114,851,130
Ensembl chr14:114,810,201...114,851,025

Cerebroretinal Microangiopathy with Calcifications and Cysts 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1

PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More...

NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,185...53,454,096

G

phosphoribosylformylglycinamidine synthase

ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1

PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More...

NCBI chr12:53,458,401...53,477,254

Cerebroretinal Microangiopathy with Calcifications and Cysts 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STN1 subunit of CST complex

ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2

PMID:25741868 PMID:27432940 PMID:28492532

NCBI chr14:114,808,217...114,851,130
Ensembl chr14:114,810,201...114,851,025

Cerebroretinal Microangiopathy with Calcifications and Cysts 3

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: Cerebroretinal microangiopathy with calcifications and cysts 3

PMID:27013236 PMID:28492532

NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890

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)

NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690

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:

NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513

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)

NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554

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 chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325

G

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

ClinVar Annotator: match by term: Choroid plexus carcinoma

NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Choroid plexus carcinoma

NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059

G

tumor protein p53

ClinVar Annotator: match by term: Choroid plexus carcinoma

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

choroid plexus papilloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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 chr11:49,077,152...49,088,218
Ensembl chr11:49,077,492...49,087,104

G

ALG11 alpha-1,2-mannosyltransferase

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

NCBI chr11:15,851,352...15,876,452
Ensembl chr11:15,857,367...15,876,405

G

ADP ribosylation factor like GTPase 11

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

NCBI chr11:18,097,723...18,100,425
Ensembl chr11:18,095,974...18,099,819

G

ATPase copper transporting beta

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

NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064

G

BORA aurora kinase A activator

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

NCBI chr11:45,017,651...45,045,127
Ensembl chr11:45,018,333...45,045,126

G

calcium binding protein 39 like

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

NCBI chr11:18,297,669...18,400,398
Ensembl chr11:18,313,796...18,401,235

G

coiled-coil domain containing 70

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

NCBI chr11:15,976,814...15,978,050
Ensembl chr11:15,977,289...15,977,945

G

cytidine and dCMP deaminase domain containing 1

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

NCBI chr11:18,467,508...18,518,137
Ensembl chr11:18,458,301...18,518,146

G

cytoskeleton associated protein 2

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

NCBI chr11:15,751,717...15,767,068
Ensembl chr11:15,751,808...15,768,046

G

CLN5 intracellular trafficking protein

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

NCBI chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886

G

chondromodulin

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

NCBI chr11:25,959,192...25,994,773
Ensembl chr11:25,961,926...25,994,651

G

COMM domain containing 6

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

NCBI chr11:47,795,110...47,818,543
Ensembl chr11:47,543,814...47,818,561

G

cysteinyl leukotriene receptor 2

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

NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015

G

dachshund family transcription factor 1

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

NCBI chr11:43,765,386...44,187,766
Ensembl chr11:43,764,271...44,187,821

G

diaphanous related formin 3

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

NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844

G

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

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

NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,963

G

deleted in lymphocytic leukemia 7

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

NCBI chr11:16,970,802...16,990,609
Ensembl chr11:16,972,554...16,989,488

G

EBP like

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

NCBI chr11:18,039,978...18,150,729
Ensembl chr11:18,040,011...18,072,633

G

endothelin receptor type B

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

NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884

G

family with sequence similarity 124 member A

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

NCBI chr11:16,572,298...16,658,094
Ensembl chr11:16,572,302...16,658,162

G

F-box and leucine rich repeat protein 3

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

NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009

G

fibronectin type III domain containing 3A

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

NCBI chr11:18,564,280...18,757,742
Ensembl chr11:18,564,280...18,757,869

G

integrator complex subunit 6

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

NCBI chr11:16,373,376...16,468,246
Ensembl chr11:16,375,452...16,465,635

G

integral membrane protein 2B

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

NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917

G

potassium channel regulator

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

NCBI chr11:17,784,243...17,796,826
Ensembl chr11:17,784,998...17,794,710

G

potassium channel tetramerization domain containing 12

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

NCBI chr11:49,025,134...49,033,208
Ensembl chr11:49,025,131...49,031,309

G

KLF transcription factor 12

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

NCBI chr11:45,981,096...46,655,472
Ensembl chr11:45,985,564...46,459,791

G

KLF transcription factor 5

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

NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314

G

kelch like family member 1

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

NCBI chr11:42,033,842...42,420,931
Ensembl chr11:42,033,851...42,419,734

G

karyopherin subunit alpha 3

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

NCBI chr11:17,948,210...18,033,818
Ensembl chr11:17,947,850...18,033,787

G

LIM domain 7

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

NCBI chr11:47,911,076...48,133,449
Ensembl chr11:48,072,159...48,133,446

G

protocadherin-8

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

NCBI chr11:26,127,398...26,133,481
Ensembl chr11:26,127,401...26,132,123

G

uncharacterized LOC106505279

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

NCBI chr11:16,021,127...16,034,650
Ensembl chr11:15,997,827...16,034,395

G

lysophosphatidic acid receptor 6

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

NCBI chr11:19,216,305...19,220,913
Ensembl chr11:19,219,077...19,220,347

G

mediator complex subunit 4

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

NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926

G

microRNA mir-15a

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

NCBI chr11:17,757,463...17,757,541
Ensembl chr11:17,757,460...17,757,554

G

microRNA mir-16-2

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

NCBI chr11:17,757,606...17,757,684
Ensembl chr11:17,757,601...17,757,687

G

motilin receptor

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

NCBI chr11:18,541,958...18,544,111
Ensembl chr11:18,542,028...18,544,112

G

MYC binding protein 2

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

NCBI chr11:49,163,969...49,432,865
Ensembl chr11:49,163,684...49,432,583

G

mitotic spindle organizing protein 1

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

NCBI chr11:45,000,735...45,019,009
Ensembl chr11:44,999,320...45,018,862

G

Nedd4 family interacting protein 2

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

NCBI chr11:51,493,981...51,560,305
Ensembl chr11:51,420,166...51,560,305

G

NIMA related kinase 3

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

NCBI chr11:15,772,578...15,798,424
Ensembl chr11:15,772,844...15,798,420

G

NIMA related kinase 5

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

NCBI chr11:15,799,068...15,862,236
Ensembl chr11:15,806,017...15,862,228

G

nudix hydrolase 15

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

NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528

G

ORC ubiquitin ligase 1

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

NCBI chr11:50,741,893...50,786,824
Ensembl chr11:50,740,916...50,786,774

G

olfactomedin 4

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

NCBI chr11:26,252,948...26,375,531
Ensembl chr11:26,350,203...26,375,716

G

protocadherin 17

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

NCBI chr11:30,510,779...30,611,732
Ensembl chr11:30,511,275...30,611,727

G

protocadherin 20

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

NCBI chr11:34,384,507...34,390,265
Ensembl chr11:34,384,511...34,389,730

G

protocadherin 9

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

NCBI chr11:38,522,221...39,455,166
Ensembl chr11:38,523,033...39,453,741

G

PHD finger protein 11

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

NCBI chr11:18,205,073...18,252,082
Ensembl chr11:18,205,078...18,251,948

G

progesterone immunomodulatory binding factor 1

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

NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,062...45,362,887

G

POU class 4 homeobox 1

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

NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,539

G

RB transcriptional corepressor 1

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

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

RNA binding motif protein 26

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

NCBI chr11:51,337,388...51,421,746
Ensembl chr11:51,339,629...51,420,512

G

RCC1 and BTB domain containing protein 1

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

NCBI chr11:18,132,013...18,197,759
Ensembl chr11:18,114,767...18,197,747

G

RCC1 and BTB domain containing protein 2

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

NCBI chr11:19,081,841...19,182,488
Ensembl chr11:19,106,531...19,182,484

G

ribonuclease H2 subunit B

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

NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969

G

sciellin

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

NCBI chr11:49,651,589...49,777,777
Ensembl chr11:49,651,673...49,775,429

G

serpin family E member 3

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

NCBI chr11:16,465,521...16,500,580
Ensembl chr11:16,466,475...16,500,541

G

SET domain bifurcated histone lysine methyltransferase 2

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

NCBI chr11:18,252,525...18,298,234
Ensembl chr11:18,252,524...18,297,826

G

SLAIN motif family member 1

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

NCBI chr11:49,807,976...49,886,829
Ensembl chr11:49,807,994...49,886,822

G

SLIT and NTRK like family member 1

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

NCBI chr11:54,950,669...54,955,768
Ensembl chr11:54,950,676...54,955,949

G

SLIT and NTRK like family member 6

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

NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197

G

sprouty RTK signaling antagonist 2

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

NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,159,156

G

SPRY domain containing 7

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

NCBI chr11:17,849,011...17,870,090
Ensembl chr11:17,848,852...17,872,257

G

succinate-CoA ligase ADP-forming subunit beta

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

NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,495...19,670,662

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

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

NCBI chr11:25,905,442...25,960,665
Ensembl chr11:25,906,010...25,954,210

G

TBC1 domain family member 4

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

NCBI chr11:47,543,808...47,760,928
Ensembl chr11:47,543,815...47,828,208

G

tudor domain containing 3

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

NCBI chr11:33,257,556...33,440,131
Ensembl chr11:33,258,063...33,440,123

G

thrombospondin type 1 domain containing 1

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

NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872

G

tripartite motif containing 13

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

NCBI chr11:17,785,031...17,850,005
Ensembl chr11:17,793,784...17,849,732

G

ubiquitin C-terminal hydrolase L3

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

NCBI chr11:47,829,037...47,885,800
Ensembl chr11:47,828,421...47,887,629

G

vacuolar protein sorting 36 homolog

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

NCBI chr11:15,701,370...15,735,469
Ensembl chr11:15,701,373...15,735,474

G

WD repeat and FYVE domain containing 2

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

NCBI chr11:16,086,872...16,272,513
Ensembl chr11:16,092,698...16,195,134

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

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 chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897

Chudley-Mccullough syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride channel CLIC like 1

ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:111,080,648...111,101,007
Ensembl chr 4:111,080,682...111,101,303

G

G protein signaling modulator 2

ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction

PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 More...

NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886

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 9:44,567,573...44,596,549
Ensembl chr 9:44,567,577...44,596,484

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 chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

catenin beta 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:9927029 PMID:10192393 PMID:23265383 PMID:25157968 PMID:26619011 More...

NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311

G

neurofibromin 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:25741868 PMID:28492532

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

platelet derived growth factor receptor alpha

disease_progression

NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441

G

patched 1

ClinVar Annotator: match by term: Craniopharyngioma

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

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

SUFU negative regulator of hedgehog signaling

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

PMID:25741868 PMID:28492532 PMID:29641532

NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003

G

TSC complex subunit 1

ClinVar Annotator: match by term: Craniopharyngioma

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

NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951

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

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

NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306

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 5:76,637,385...76,800,155
Ensembl chr 5:76,636,967...76,797,043

G

CCCTC-binding factor

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003

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 chr12:36,498,138...36,639,847
Ensembl chr12:36,498,205...36,635,973

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:25741868 PMID:28492532

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

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 3:109,411,146...110,105,755

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 chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418

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 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

FA complementation group A

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

NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152

G

fibroblast growth factor receptor 3

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

PMID:25741868 PMID:28492532

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

isocitrate dehydrogenase (NADP(+)) 1

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

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

lysine demethylase 5B

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

NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,838...24,831,447

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 chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

PMS1 homolog 2, mismatch repair system component

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

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

NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628

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 chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412

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 chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524

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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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 5:23,029,325...23,038,987
Ensembl chr 5:23,029,306...23,038,977

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: :

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

dysembryoplastic neuroepithelial tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

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

NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Dysgerminoma

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

NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668

G

fibroblast growth factor receptor 2

associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2

NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425

G

inhibin subunit alpha

protein:increased expression:tumor

NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006

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 chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

G

POU class 5 homeobox 1

NCBI chr 7:23,564,654...23,570,691

G

SET nuclear proto-oncogene

ClinVar Annotator: match by term: Dysgerminoma

NCBI chr 1:269,050,447...269,064,462

G

ST14 transmembrane serine protease matriptase

protein:increased expression:ovary

NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767

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 3:17,547,546...17,589,431
Ensembl chr 3:17,547,582...17,551,853

G

EPH receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536

G

insulin like growth factor 2

mRNA:increased expression:cerebellum

NCBI chr 2:1,469,183...1,496,417

G

RAB3A, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,603,090...59,609,773
Ensembl chr 2:59,603,117...59,609,767

G

retbindin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:66,188,077...66,191,434
Ensembl chr 2:66,188,089...66,193,654

G

SHC adaptor protein 3

DNA:amplification:brain:

NCBI chr14:672,439...836,090
Ensembl chr14:679,431...834,382

G

zinc finger protein 668

CTD Direct Evidence: marker/mechanism

NCBI chr 3:17,406,263...17,417,115
Ensembl chr 3:17,406,273...17,416,795

Familial Cerebral Cavernous Malformation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme (peptidyl-dipeptidase A) 1

DNA:deletion:intron:IVS16+1464-1751del (human)

NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703

G

cullin associated and neddylation dissociated 2 (putative)

NCBI chr13:68,758,739...68,787,200
Ensembl chr13:68,758,734...68,787,192

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 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781

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 3:109,411,146...110,105,755

G

G protein subunit alpha i2

ClinVar Annotator: match by term: Familial isolated pituitary adenoma

NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794

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 4:93,239,678...93,258,075
Ensembl chr 4:93,239,969...93,258,075

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 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981

G

prolactin receptor

OMIM:155240

NCBI chr16:20,637,568...20,655,881
Ensembl chr16:20,618,875...20,810,140

G

ret proto-oncogene

susceptibility

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

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

NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412

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

NCBI chr14:99,923,996...99,928,887

G

schwannomin-interacting protein 1

ClinVar Annotator: match by term: Familial meningioma

NCBI chr13:98,858,981...99,633,023

G

MN1 proto-oncogene, transcriptional regulator

ClinVar Annotator: match by term: Familial meningioma

NCBI chr14:45,093,660...45,142,476
Ensembl chr14:45,096,485...45,140,570

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

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

NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Familial meningioma

Ensembl chr 5:8,986,462...9,007,435

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to

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

NCBI chr14:99,929,590...100,021,619

G

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

susceptibility

ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to

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

NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,786,897...21,807,162

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to

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

NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003

familial retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Hereditary retinoblastoma

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

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

fibrillary astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

ganglioglioma

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: Ganglioglioma

PMID:25741868 PMID:28492532

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Childhood ganglioglioma

PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 More...

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

neurofibromin 1

ClinVar Annotator: match by term: Ganglioglioma

PMID:7607663 PMID:10712197 PMID:15523642 PMID:16835897 PMID:16944272 More...

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

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

NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058

G

menin 1

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

PMID:15944766 PMID:17961653

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

MET proto-oncogene, receptor tyrosine kinase

severity

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

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

O-6-methylguanine-DNA methyltransferase

DNA:hypomethylation:promoter (human)

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet

PMID:8421107 PMID:12114701

RGD:2324976 RGD:2324977

NCBI chr13:109,592,595...109,614,105
Ensembl chr13:109,587,258...109,638,510

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)

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552

G

ATRX chromatin remodeler

severity

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

CD53 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 4:109,306,552...109,335,876
Ensembl chr 4:109,306,555...109,335,802

G

CD86 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310

G

class II major histocompatibility complex transactivator

CTD Direct Evidence: marker/mechanism

NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780

G

C-X-C motif chemokine receptor 4

severity

protein:increased expression:colon (human)

NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232

G

death domain associated protein

severity

NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110

G

eomesodermin

CTD Direct Evidence: marker/mechanism

NCBI chr13:14,209,590...14,216,184
Ensembl chr13:14,209,736...14,215,797

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859

G

growth factor independent 1 transcriptional repressor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638

G

IKAROS family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312

G

interleukin 10

CTD Direct Evidence: marker/mechanism

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 2 receptor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

G

POU class 2 homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,791,937...49,829,771
Ensembl chr 6:49,727,012...49,825,816

G

protein tyrosine phosphatase receptor type C

CTD Direct Evidence: marker/mechanism

NCBI chr10:21,482,984...21,601,627
Ensembl chr10:21,560,073...21,601,308

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645

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)

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

cyclin D2

NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571

G

cyclin dependent kinase inhibitor 2A

DNA:transition:exon:142G>A

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

matrix Gla protein

mRNA:increased expression:tumor

NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764

G

podoplanin

NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996

G

patched 1

ClinVar Annotator: match by term: Germinoma

PMID:25741868 PMID:28492532

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

glioblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 3

mRNA:increased expression:brain (human)

NCBI chr15:20,104,808...20,171,721
Ensembl chr15:20,104,812...20,167,421

G

adhesion G protein-coupled receptor B1

treatment

mRNA:decreased expression:brain:

PMID:12507886 PMID:16244591

RGD:13831352 RGD:13831355

NCBI chr 4:1,582,321...1,658,639
Ensembl chr 4:1,582,330...1,647,573

G

adhesion G protein-coupled receptor L4

treatment
severity

PMID:23096411 PMID:27416955

RGD:13838664 RGD:13838665

NCBI chr 6:134,362,714...134,462,697
Ensembl chr 6:134,362,901...134,462,694

G

AKT serine/threonine kinase 1

G

AKT serine/threonine kinase 3

disease_progression

NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

arrestin beta 2

ameliorates

NCBI chr12:52,161,776...52,170,362
Ensembl chr12:52,161,778...52,170,342

G

assembly factor for spindle microtubules

mRNA:increased expression:brain:

NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552

G

ATRX chromatin remodeler

disease_progression

ClinVar Annotator: match by term: Glioblastoma multiforme, somatic

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

BAG cochaperone 3

treatment

NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr13:104,946,732...105,007,568

G

beclin 1

disease_progression

NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373

G

basic helix-loop-helix family member e40

CTD Direct Evidence: marker/mechanism

NCBI chr13:61,526,121...61,533,686
Ensembl chr13:61,526,116...61,533,674

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564

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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,152,043...25,162,578

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:26455392 PMID:27388964

NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,989...62,345,362

G

bromodomain containing 7

protein:increased expression:brain:

NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,663

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710

G

chromobox 6

disease_progression

mRNA,protein:decreased expression:astrocyte:

NCBI chr 5:9,180,559...9,191,414
Ensembl chr 5:9,180,684...9,188,620

G

chromobox 7

disease_progression

mRNA,protein:decreased expression:astrocyte:

NCBI chr 5:9,070,312...9,090,467
Ensembl chr 5:9,070,353...9,087,634

G

chromobox 8

mRNA:increased expression:astrocyte:

NCBI chr12:2,562,419...2,565,035
Ensembl chr12:2,562,374...2,565,780

G

cyclin H

CTD Direct Evidence: marker/mechanism

NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634

G

CD9 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304

G

cyclin dependent kinase 4

DNA:amplication

NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

cyclin dependent kinase 6

severity

CTD Direct Evidence: marker/mechanism

PMID:10884881 PMID:20534551

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

cyclin dependent kinase inhibitor 2A

treatment

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

chromatin assembly factor 1 subunit B

protein:increased expression:brain:

NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,149...200,072,556

G

chitinase 3 like 1

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

PMID:11161003 PMID:21029458

NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131

G

cytoplasmic polyadenylation element binding protein 1

disease_progression

NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,732

G

CREB binding protein

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

cystatin B

CTD Direct Evidence: marker/mechanism

NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646

G

catenin delta 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:508,630...1,521,773
Ensembl chr16:508,637...1,521,749

G

cathepsin B

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

PMID:17898873 PMID:22287159

NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877

G

cathepsin H

protein:increased expression:brain

NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072

G

cathepsin K

CTD Direct Evidence: marker/mechanism

NCBI chr 4:98,389,459...98,404,969
Ensembl chr 4:98,391,428...98,404,961

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

deuterosome assembly protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:25,688,394...25,893,105
Ensembl chr 9:25,689,034...25,893,096

G

deleted in malignant brain tumors 1

DNA:deletion

NCBI chr14:132,154,346...132,231,274

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Glioblastoma

NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087

G

dual specificity phosphatase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504

G

E2F transcription factor 1

disease_progression

NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883

G

epidermal growth factor

susceptibility

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

PMID:16598420 PMID:22481252

NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046

G

epidermal growth factor receptor

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

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

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

severity

protein:increased expression:brain (human)

NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

fatty acid binding protein 7

severity

mRNA, protein:increased expression:brain (human)

NCBI chr 1:39,872,198...39,876,272
Ensembl chr 1:39,871,537...39,876,397

G

family with sequence similarity 83 member D

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,868,982...41,892,222
Ensembl chr17:41,868,976...41,892,220

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Glioblastoma

NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014

G

FOS like 2, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068

G

frataxin

NCBI chr 1:222,412,485...222,433,224
Ensembl chr 1:222,412,509...222,454,776

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536

G

glutamate ionotropic receptor kainate type subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:68,052,086...68,680,448
Ensembl chr 1:68,057,538...68,679,256

G

H2A.X variant histone

CTD Direct Evidence: marker/mechanism

NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084

G

H3.3 histone A

ClinVar Annotator: match by term: Glioblastoma

PMID:26619011 PMID:26822237

NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,923,077...13,948,484

G

HEAT repeat containing 1

mRNA, protein:increased expression:brain

NCBI chr14:54,821,073...54,870,873
Ensembl chr14:54,821,171...54,869,857

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845

G

homeobox D10

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,637...81,921,461

G

HRas proto-oncogene, GTPase

severity

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

isocitrate dehydrogenase (NADP(+)) 1

onset
disease_progression

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

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

RGD:11074562 RGD:11522732

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

interleukin 16

protein:increased expression:brain

NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346

G

interleukin 2

CTD Direct Evidence: therapeutic

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

G

potassium voltage-gated channel subfamily C member 2

mRNA:splice variant (human)

NCBI chr 5:38,326,408...38,535,826
Ensembl chr 5:38,326,414...38,533,110

G

kinase insert domain receptor

treatment

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

KRAS proto-oncogene, GTPase

treatment

mRNA:decreased expression:brain

PMID:16166301 PMID:19179066

RGD:13702861 RGD:13702872

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

L1 cell adhesion molecule

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

NCBI chr X:124,595,649...124,618,292
Ensembl chr X:124,595,651...124,618,307

G

solute carrier family 22 member 10-like

CTD Direct Evidence: marker/mechanism

NCBI chr 2:8,734,036...8,750,828

G

interleukin-1 beta-like

CTD Direct Evidence: marker/mechanism

G

stefin A8

CTD Direct Evidence: marker/mechanism

NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860

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 2:303,836...323,701
Ensembl chr 2:304,430...323,699

G

leucine rich repeat containing 59

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,678,207...26,694,277
Ensembl chr12:26,677,226...26,694,279

G

latent transforming growth factor beta binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:48,831,018...48,861,503
Ensembl chr 6:48,831,014...48,861,507

G

leucine zipper like post translational regulator 1

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

NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397

G

macrophage immunometabolism regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 2:108,733,347...108,753,276
Ensembl chr 2:108,733,357...108,753,275

G

microtubule associated protein 1 light chain 3 alpha

treatment

NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505

G

mitogen-activated protein kinase kinase 2

treatment

NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348

G

mitogen-activated protein kinase kinase 3

disease_progression

protein:increased expression, increased phosphorylation:brain

NCBI chr12:61,396,337...61,417,333
Ensembl chr12:61,396,369...61,417,321

G

MDM2 proto-oncogene

DNA:amplication

NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739

G

MDM4 regulator of p53

CTD Direct Evidence: marker/mechanism

NCBI chr 9:65,175,488...65,219,747
Ensembl chr 9:65,175,377...65,219,742

G

mediator complex subunit 12

ClinVar Annotator: match by term: Glioblastoma

NCBI chr X:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

O-6-methylguanine-DNA methyltransferase

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

PMID:14669534 PMID:20131314 PMID:22162573

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

microRNA mir-21

ameliorates

NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358

G

microRNA mir-31

RNA:decreased expression:brain (human)

NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809

G

matrix metallopeptidase 2

severity

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

PMID:7616276 PMID:16598420

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 7

severity

protein:increased expression:brain (human)

NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080

G

matrix metallopeptidase 9

severity
treatment

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

PMID:7616276 PMID:12439751 PMID:16598420

RGD:7207145 RGD:8547973

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

mutS homolog 2

ClinVar Annotator: match by term: Glioblastoma

NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Glioblastoma

NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046

G

nuclear receptor corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:59,256,868...59,392,564
Ensembl chr12:59,273,100...59,392,562

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335

G

NDRG family member 4

mRNA, protein:decreased expression:brain

NCBI chr 6:20,222,876...20,265,581
Ensembl chr 6:20,223,667...20,265,576

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

NFKB inhibitor alpha

treatment

human cell line in a mouse model

NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

platelet derived growth factor subunit B

Ensembl chr 5:8,986,462...9,007,435

G

platelet derived growth factor receptor beta

treatment

NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647

G

podoplanin

NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996

G

platelet and endothelial cell adhesion molecule 1

NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293

G

placental growth factor

disease_progression

NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

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

disease_progression

PMID:21188471 PMID:26956052

RGD:11343921 RGD:13782050

NCBI chr13:79,427,033...79,610,840
Ensembl chr13:79,425,835...79,610,840

G

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

disease_progression

NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Glioblastoma

PMID:19962457 PMID:25157968 PMID:26619011

NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609

G

Pim-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:32,788,246...32,793,882
Ensembl chr 7:32,788,291...32,793,878

G

PML nuclear body scaffold

CTD Direct Evidence: marker/mechanism

NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547

G

DNA polymerase kappa

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,555,648...84,619,490
Ensembl chr 2:84,538,056...84,619,485

G

protection of telomeres 1

ClinVar Annotator: match by term: Glioblastoma, somatic

NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890

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 chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944

G

parkin RBR E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872

G

prominin 1

CTD Direct Evidence: marker/mechanism

PMID:18679414 PMID:18829568 PMID:19718438

NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr14:99,929,590...100,021,619

G

prostaglandin-endoperoxide synthase 1

disease_progression

protein:increased expression:microglia, macrophage,

PMID:10229132 PMID:11121536

RGD:5688245 RGD:5688250

NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:endothelial cell

PMID:10229132 PMID:11121536

RGD:5688245 RGD:5688250

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054

G

pleiotrophin

protein:increased expression:brain (human)

NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,787...12,309,044

G

protein tyrosine phosphatase receptor type B

treatment

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

PMID:14692702 PMID:15831233 PMID:16489031

RGD:151660504 RGD:151660507 RGD:151664746

NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289

G

RB transcriptional corepressor 1

severity

DNA:hypermethylation:promoter:

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

reversion inducing cysteine rich protein with kazal motifs

CTD Direct Evidence: therapeutic

NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276

G

ribosomal protein L35a

mRNA:increased expression:brain (human)

NCBI chr13:134,588,288...134,591,873
Ensembl chr13:134,588,392...134,591,868

G

ribosomal protein L5

DNA:mutations:multiple (human)

NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,594...124,367,645

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026

G

septin 14

CTD Direct Evidence: marker/mechanism

NCBI chr 3:16,988,590...17,026,258
Ensembl chr 3:16,991,002...17,026,949

G

serpin family G member 1

treatment

NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663

G

solute carrier family 7 member 5

disease_progression

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Glioblastoma multiforme

NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,168

G

serrate, RNA effector molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:8,717,782...8,731,204
Ensembl chr 3:8,717,785...8,731,201

G

signal transducer and activator of transcription 3

disease_progression

mRNA, protein:increased expression:brain (human)

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

signal transducer and activator of transcription 5A

disease_progression
treatment

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

NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,601...43,032,654

G

testin LIM domain protein

CTD Direct Evidence: marker/mechanism

NCBI chr18:29,895,878...29,936,248
Ensembl chr18:29,895,882...29,936,233

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16170020 PMID:17099729

NCBI chr17:41,186,765...41,221,686
Ensembl chr17:41,186,770...41,221,637

G

transmembrane protein 135

CTD Direct Evidence: marker/mechanism

NCBI chr 9:20,741,085...21,020,899
Ensembl chr 9:20,721,991...21,021,130

G

tenascin C

NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324

G

tumor protein p53

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

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

tumor protein p53 binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:127,958,500...128,032,370
Ensembl chr 1:127,959,213...128,028,712

G

tRNA methyltransferase 11 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:36,930,857...37,002,079
Ensembl chr 1:36,940,334...37,002,056

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

G

zinc finger and BTB domain containing 7A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:74,678,293...74,699,347
Ensembl chr 2:74,681,193...74,694,869

glioblastoma proneural subtype

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

RNA:decreased expression:brain:

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

gliosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chemokine (C-C motif) ligand 2

severity

mouse gene in a rat model

NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

cytochrome P450 family 2 subfamily B member 6B

CTD Direct Evidence: therapeutic

PMID:9766669 PMID:11389073

NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334

G

cytochrome P450 C42

CTD Direct Evidence: therapeutic

NCBI chr14:106,666,445...106,701,809
Ensembl chr14:106,666,419...106,713,121

G

plasminogen activator, urokinase

severity

mouse gene in rat model

NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172

G

cytochrome p450 oxidoreductase

CTD Direct Evidence: therapeutic

NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:microglia, macrophage,

NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:endothelial cell

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

Glucagonoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

betacellulin

protein:increased expression:pancreas

NCBI chr 8:70,645,721...70,697,538
Ensembl chr 8:70,649,317...70,697,420

G

menin 1

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

PMID:17961653 PMID:20138042

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet

PMID:8421107 PMID:12114701

RGD:2324976 RGD:2324977

NCBI chr13:109,592,595...109,614,105
Ensembl chr13:109,587,258...109,638,510

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 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:pituitary gland:

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021

G

G protein-coupled receptor 101

CTD Direct Evidence: marker/mechanism

NCBI chr X:112,109,592...112,111,333
Ensembl chr X:112,108,889...112,113,652

G

15-hydroxyprostaglandin dehydrogenase

mRNA:decreased expression:pituitary gland

NCBI chr14:15,718,261...15,773,534
Ensembl chr14:15,718,678...15,760,767

G

menin 1

ClinVar Annotator: match by term: Somatotroph adenoma

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710

G

prostaglandin-endoperoxide synthase 2

mRNA:increased expression:pituitary gland

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

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:112,109,592...112,111,333
Ensembl chr X:112,108,889...112,113,652

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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834

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 chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

high grade glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1

ClinVar Annotator: match by term: Brainstem glioma

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

NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544

G

adhesion G protein-coupled receptor A2

ClinVar Annotator: match by term: Ependymoma

NCBI chr15:48,572,953...48,611,034
Ensembl chr15:48,573,197...48,610,668

G

AKT serine/threonine kinase 2

protein:increased expression:cytoplasm (human)

NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,795...48,587,919

G

angiomotin like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:26,811,872...26,978,107
Ensembl chr 9:26,864,312...26,973,552

G

angiopoietin 2

protein:increased expression:brain (rat)

NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041

G

apolipoprotein D

CTD Direct Evidence: marker/mechanism

NCBI chr13:132,514,546...132,562,594
Ensembl chr13:132,514,949...132,562,599

G

A-Raf proto-oncogene, serine/threonine kinase

disease_progression

NCBI chr X:42,078,202...42,090,250
Ensembl chr X:42,078,206...42,090,250

G

amphiregulin

NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Ependymoma

NCBI chr 9:55,903,365...56,177,639
Ensembl chr 9:55,906,954...56,177,551

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502

G

ADP ribosylation factor like GTPase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,157,963...7,167,024
Ensembl chr 2:7,157,918...7,167,212

G

assembly factor for spindle microtubules

disease_progression

mRNA:increased expression:brain:

NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623

G

activating transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:54,945,067...54,950,142
Ensembl chr 6:54,945,119...54,950,137

G

autophagy related 2A

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,261,819...7,282,614
Ensembl chr 2:7,262,031...7,282,347

G

autophagy related 7

treatment

NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654

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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,635

G

ATRX chromatin remodeler

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

PMID:23104868 PMID:23583981 PMID:24705251

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

BCL2 associated agonist of cell death

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863

G

BTG3 associated nuclear protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486

G

BRCA1 associated protein 1

ClinVar Annotator: match by term: Astrocytoma

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

BarH like homeobox 1

protein:increased expression:brain:

NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,402...272,381,224

G

basic leucine zipper ATF-like transcription factor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,180,019...7,188,996
Ensembl chr 2:7,180,259...7,188,989

G

brevican

severity

protein:increased expression:brain:

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

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

NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831

G

bradykinin receptor B2

mRNA:increased expression:brain

NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,713...117,472,005

G

baculoviral IAP repeat containing 5

protein:increased expression:brain

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Brainstem glioma

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

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

BRCA2 DNA repair associated

susceptibility

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

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

NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418

G

bromodomain containing 7

protein:increased expression:brain:

NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,663

G

complement C3

treatment

NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Malignant glioma

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

NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710

G

calcium voltage-gated channel auxiliary subunit gamma 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:11,067,016...11,185,480
Ensembl chr 5:11,067,692...11,185,480

G

calcium/calmodulin dependent protein kinase II alpha

disease_progression

NCBI chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,358...151,308,706

G

calcium/calmodulin dependent protein kinase II beta

disease_progression

NCBI chr18:50,862,225...50,956,263
Ensembl chr18:50,861,466...50,956,225

G

calcium/calmodulin dependent protein kinase kinase 2

disease_progression

NCBI chr14:31,307,418...31,366,504
Ensembl chr14:31,312,049...31,366,499

G

calpain 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,985...7,022,684

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452

G

catsper channel auxiliary subunit zeta

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,813,296...7,817,327

G

caveolin 1

NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465

G

caveolin 2

NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277

G

coiled-coil domain containing 88B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,767,924...7,784,625

G

cellular communication network factor 1

exacerbates

human cells in mouse model

NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150

G

cyclin D1

susceptibility
disease_progression

PMID:21844184 PMID:22304571

RGD:13681930 RGD:13702091

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,983

G

CD40 molecule

treatment

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

G

CD80 molecule

NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976

G

CDC42 binding protein kinase gamma

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,328,231...7,347,551
Ensembl chr 2:7,328,156...7,347,451

G

CDC42 effector protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,897,497...6,904,040
Ensembl chr 2:6,895,847...6,904,040

G

cell division cycle associated 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,103,648...7,112,772
Ensembl chr 2:7,103,673...7,113,202

G

cyclin dependent kinase 4

disease_progression

PMID:21844184 PMID:23761023

RGD:13702090 RGD:13702091

NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

cyclin dependent kinase 6

severity

DNA:amplification:

PMID:9102208 PMID:22736304

RGD:13702093 RGD:13702094

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

cyclin dependent kinase inhibitor 1A

severity
treatment

DNA:hypermethylation:promoter:

PMID:9144534 PMID:18791688 PMID:20844987

RGD:13702125 RGD:13702128 RGD:13702129

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761

G

cyclin dependent kinase inhibitor 2A

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:deletions

PMID:11314047 PMID:15814359 PMID:19578367

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cyclin dependent kinase inhibitor 2B

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056

G

chromatin assembly factor 1 subunit A

susceptibility

DNA:SNP:intron:rs243356(human)

NCBI chr 2:74,380,706...74,411,875
Ensembl chr 2:74,380,709...74,411,825

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:brain:

NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,149...200,072,556

G

checkpoint kinase 2

ClinVar Annotator: match by term: Astrocytoma

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

NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290

G

chitinase 3 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131

G

chloride voltage-gated channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867

G

chloride voltage-gated channel 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:20,037,628...20,127,160
Ensembl chr14:20,026,685...20,127,155

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:43,779,016...43,809,472
Ensembl chr X:43,613,628...43,811,526

G

contactin 2

severity

mRNA, protein:increased expression:brain (human)

NCBI chr 9:65,737,488...65,776,412
Ensembl chr 9:65,736,740...65,776,396

G

cytochrome c oxidase subunit 8A

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:8,101,609...8,103,313
Ensembl chr 2:8,101,613...8,103,285

G

ciliogenesis and planar polarity effector complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

PMID:25741868 PMID:28492532

NCBI chr16:22,381,001...22,501,052
Ensembl chr16:22,380,326...22,500,998

G

colony stimulating factor 1

NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900

G

cathepsin B

NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877

G

C-X-C motif chemokine receptor 3

NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692

G

cytochrome P450 family 2 subfamily E member 1

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

NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817

G

decorin

disease_progression

NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,682,658...91,714,235

G

doublecortin

treatment
disease_progression

PMID:17178868 PMID:19681167 PMID:21477071

RGD:12904748 RGD:12904754 RGD:12904761

NCBI chr X:91,317,671...91,644,572
Ensembl chr X:91,323,764...91,644,567

G

discoidin domain receptor tyrosine kinase 1

severity

mRNA, protein:increased expression:brain (human)

NCBI chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,845...23,391,584

G

DEP domain containing 5, GATOR1 subcomplex subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:48,421,788...48,523,530
Ensembl chr14:48,421,880...48,523,593

G

delta like non-canonical Notch ligand 1

NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654

G

delta like canonical Notch ligand 4

ameliorates

NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411

G

Dmx like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:123,003,077...123,142,865
Ensembl chr 2:123,003,086...123,141,060

G

DnaJ heat shock protein family (Hsp40) member C4

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,876,587...7,880,908
Ensembl chr 2:7,876,590...7,880,587

G

double PHD fingers 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,332...6,886,467

G

E2F transcription factor 1

severity

NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883

G

E2F transcription factor 3

disease_progression

NCBI chr 7:15,793,519...15,870,213
Ensembl chr 7:15,794,178...15,870,204

G

EGF containing fibulin extracellular matrix protein 1

protein:increased expression:brain:

NCBI chr 3:85,407,677...85,473,251
Ensembl chr 3:85,407,677...85,473,252

G

elongation factor like GTPase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:50,839,725...50,977,024
Ensembl chr 7:50,839,725...50,977,024

G

epidermal growth factor

susceptibility

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

PMID:17473192 PMID:22106858

RGD:13702473 RGD:13702474

NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046

G

epidermal growth factor receptor

treatment

ClinVar Annotator: match by term: Brainstem glioma

PMID:10616092 PMID:17177598 PMID:26619011

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

EH domain binding protein 1 like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,662,460...6,678,721
Ensembl chr 2:6,662,463...6,678,888

G

EH domain containing 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,299,295...7,321,580
Ensembl chr 2:7,298,208...7,321,576

G

ectonucleoside triphosphate diphosphohydrolase 2

G

EPH receptor A5

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 8:63,285,006...63,604,734
Ensembl chr 8:63,287,711...63,604,734

G

erythropoietin

NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936

G

erythropoietin receptor

NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Glioma susceptibility 1

NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

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

NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

G

ERCC excision repair 5, endonuclease

susceptibility

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

NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322

G

estrogen related receptor alpha

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,803,504...7,812,868
Ensembl chr 2:7,803,510...7,813,098

G

coagulation factor II, thrombin

treatment

NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137

G

family with sequence similarity 107 member A

CTD Direct Evidence: marker/mechanism

NCBI chr13:40,276,896...40,369,708

G

family with sequence similarity 89 member B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,680,832...6,682,506
Ensembl chr 2:6,681,490...6,682,511

G

Fas cell surface death receptor

severity

mouse gene in a rat model

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348

G

FERM domain containing kindlin 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,886,781...7,909,892
Ensembl chr 2:7,886,790...7,909,158

G

fibroblast growth factor 2

CTD Direct Evidence: therapeutic

NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916

G

fibroblast growth factor receptor 1

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

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

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

FKBP prolyl isomerase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,868,229...7,871,184
Ensembl chr 2:7,868,230...7,871,097

G

fibronectin leucine rich transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,971,782...8,052,572
Ensembl chr 2:7,976,567...7,991,150

G

FERM domain containing 8

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,822,964...6,843,941
Ensembl chr 2:6,822,967...6,843,470

G

ferritin heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:9,535,051...9,537,979

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536

G

gap junction protein alpha 1

NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156

G

galactosidase beta 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146

G

gon-4 like

ClinVar Annotator: match by term: Ependymoma

NCBI chr 4:94,161,887...94,248,785

G

glycoprotein hormone subunit alpha 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,245,287...7,248,268
Ensembl chr 2:7,247,069...7,247,932

G

G protein-coupled receptor 137

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,826,454...7,831,010
Ensembl chr 2:7,826,456...7,830,969

G

glutathione S-transferase mu 3

DNA: deletion: intron 6

NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962

G

H3.3 histone A

ClinVar Annotator: match by term: Brainstem glioma

NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,923,077...13,948,484

G

histone deacetylase 3

disease_progression

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

NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399

G

helicase, lymphoid specific

severity

NCBI chr14:105,923,727...105,967,003
Ensembl chr14:105,924,536...105,955,430

G

hepatocyte growth factor

disease_progression

protein:increased expression:brain:

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

high mobility group box 1

treatment

NCBI chr11:7,195,556...7,321,071

G

high mobility group nucleosome binding domain 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:64,541,310...64,617,345

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,906,654...81,910,765
Ensembl chr15:81,908,460...81,911,282

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

heat shock protein family A (Hsp70) member 5

protein:increased expression

NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894

G

isocitrate dehydrogenase (NADP(+)) 1

susceptibility

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

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

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

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 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554

G

interferon gamma

NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670

G

insulin like growth factor 1

severity

protein:increased expression:serum:

NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033

G

insulin like growth factor 1 receptor

DNA: SNP: : rs2272037 or rs2016347

NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058

G

insulin like growth factor binding protein 3

severity

protein:increased expression:serum:

NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690

G

interleukin 10

susceptibility

DNA:SNP: :rs1800896 (human)

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 12A

CTD Direct Evidence: therapeutic

NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078

G

interleukin 12B

CTD Direct Evidence: therapeutic

NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929

G

interleukin 18

treatment

NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219

G

interleukin 2

treatment

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 4

treatment

NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365

G

interleukin 7

NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,684,796...57,744,709

G

ISG15 ubiquitin like modifier

CTD Direct Evidence: marker/mechanism

NCBI chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673

G

potassium two pore domain channel subfamily K member 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,817,062...7,824,390
Ensembl chr 2:7,817,342...7,823,927

G

potassium two pore domain channel subfamily K member 7

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,657,841...6,662,445
Ensembl chr 2:6,659,054...6,662,288

G

lysine demethylase 5B

disease_progression

NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,838...24,831,447

G

kinase insert domain receptor

disease_progression
severity

PMID:10506722 PMID:20501615

RGD:5684393 RGD:5684425

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

kelch like family member 21

ClinVar Annotator: match by term: Ependymoma

NCBI chr 6:67,420,618...67,434,812
Ensembl chr 6:67,420,622...67,434,812

G

killin, p53 regulated DNA replication inhibitor

ClinVar Annotator: match by term: Glioma susceptibility 2

PMID:25741868 PMID:27535533

NCBI chr14:99,923,996...99,928,887

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 5:15,049,827...15,091,622

G

KRAS proto-oncogene, GTPase

severity

PMID:19435821 PMID:22207524

RGD:13702477 RGD:13702860

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

kringle containing transmembrane protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:39,214,251...39,218,805
Ensembl chr 3:39,214,248...39,218,776

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593

G

galectin 3

disease_progression

NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951

G

DNA ligase 4

DNA:SNP: :rs1805388 (human)

NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716

G

phosphatidylinositol 3-kinase regulatory subunit gamma

treatment

NCBI chr 6:165,268,260...165,402,668
Ensembl chr 6:165,268,568...165,402,649

G

glutathione S-transferase P-like

susceptibility

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

PMID:15006924 PMID:16899598

NCBI chr 2:5,005,498...5,009,247

G

lymphotoxin alpha

treatment

NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153

G

mono-ADP ribosylhydrolase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,939,125...8,087,656
Ensembl chr 2:7,939,125...8,088,595

G

membrane anchored junction protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,209,376...7,244,400

G

mitogen-activated protein kinase kinase 1

NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226

G

mitogen-activated protein kinase kinase kinase 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,640,061...6,657,717
Ensembl chr 2:6,640,056...6,657,713

G

mitogen-activated protein kinase kinase kinase kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,365,184...7,378,999
Ensembl chr 2:7,365,246...7,378,996

G

mitogen-activated protein kinase kinase kinase kinase 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:100,887,148...101,084,667
Ensembl chr 3:100,887,143...101,084,677

G

mitogen-activated protein kinase 3

NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567

G

microtubule affinity regulating kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:8,153,870...8,216,141
Ensembl chr 2:8,155,348...8,215,959

G

midkine

CTD Direct Evidence: marker/mechanism

NCBI chr 2:16,130,787...16,133,791
Ensembl chr 2:16,130,788...16,133,510

G

menin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:brain, glioma (rat)

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

PMID:16033832 PMID:16899598 PMID:19901110

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

microRNA mir-192

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746

G

marker of proliferation Ki-67

NCBI chr14:137,266,622...137,296,312

G

matrix metallopeptidase 2

treatment

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

mitochondrial ribosomal protein L49

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,066,514...7,071,812
Ensembl chr 2:7,066,523...7,071,812

G

mutS homolog 2

ClinVar Annotator: match by term: Ependymoma

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

NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736

G

mechanistic target of rapamycin kinase

severity

NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23583981 PMID:26829751

NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:68,120,078...68,159,513
Ensembl chr 4:68,119,865...68,159,509

G

myosin light chain kinase

CTD Direct Evidence: marker/mechanism

NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668

G

N-alpha-acetyltransferase 40, NatD catalytic subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:8,115,288...8,130,075
Ensembl chr 2:8,115,289...8,129,973

G

N-acetylated alpha-linked acidic dipeptidase like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,127,197...7,138,420
Ensembl chr 2:7,127,624...7,138,415

G

NAD synthetase 1

susceptibility

NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,799...2,372,361

G

NDRG family member 4

disease_progression

protein:decreased expression:brain

NCBI chr 6:20,222,876...20,265,581
Ensembl chr 6:20,223,667...20,265,576

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr10:65,428,013...65,438,346
Ensembl chr10:65,425,011...65,459,754

G

neurofibromin 1

disease_progression

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

PMID:25119042 PMID:26190195

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

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

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

nitric oxide synthase 3

protein:increased expression:blood vessel endothelial cell

NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943

G

neurexin 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,454,771...7,554,180
Ensembl chr 2:7,478,750...7,515,943

G

neurotrophic receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981

G

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882

G

neurotrophic receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,301...191,925,327

G

nudix hydrolase 22

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,881,056...7,883,825
Ensembl chr 2:7,881,060...7,883,791

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:8,088,528...8,095,555
Ensembl chr 2:8,087,829...8,095,609

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:43,001,491...43,029,471
Ensembl chr X:43,000,231...43,029,468

G

POZ/BTB and AT hook containing zinc finger 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:48,075,345...48,093,385
Ensembl chr14:48,075,347...48,093,931

G

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

mRNA:decreased expression:brain:

NCBI chr 1:16,202,859...16,249,879
Ensembl chr 1:16,198,223...16,249,531

G

pecanex 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,619,213...6,639,933
Ensembl chr 2:6,619,215...6,639,953

G

PDGFA associated protein 1

severity

NCBI chr 3:6,342,548...6,355,213
Ensembl chr 3:6,343,831...6,355,213

G

platelet derived growth factor subunit A

in a mouse model

NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712

G

platelet derived growth factor subunit B

severity

PMID:21677873 PMID:26945107 PMID:27448842

RGD:13702895 RGD:13702896 RGD:13702897

Ensembl chr 5:8,986,462...9,007,435

G

pleckstrin homology like domain family B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,902,099...45,949,415
Ensembl chr 9:45,902,155...45,949,415

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

plasminogen activator, urokinase

severity

protein:increased expression:brain (human)

NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172

G

phospholipase C beta 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,844,931...7,860,183
Ensembl chr 2:7,843,340...7,860,193

G

polo like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:22,537,814...22,550,901
Ensembl chr 3:22,537,831...22,552,380

G

DNA polymerase alpha 2, accessory subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,922,384...6,950,289
Ensembl chr 2:6,922,387...6,950,179

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 chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890

G

POU class 3 homeobox 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:66,765,044...66,766,642
Ensembl chr X:66,765,105...66,766,190

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,564,654...23,570,691

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 chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944

G

protein phosphatase, Mg2+/Mn2+ dependent 1D

CTD Direct Evidence: marker/mechanism

NCBI chr12:37,485,601...37,536,159
Ensembl chr12:37,485,588...37,536,146

G

protein phosphatase 1 regulatory inhibitor subunit 14B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,865,445...7,867,878
Ensembl chr 2:7,862,661...7,867,876

G

protein phosphatase 2 regulatory subunit B'beta

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,248,141...7,256,796
Ensembl chr 2:7,248,151...7,256,427

G

peroxiredoxin 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,798,672...7,801,955
Ensembl chr 2:7,798,670...7,802,952

G

protein kinase C alpha

DNA:gene fusion: :

NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554

G

pleckstrin and Sec7 domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:12,645,743...13,267,176
Ensembl chr17:12,758,536...13,264,174

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2

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

NCBI chr14:99,929,590...100,021,619

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

glycogen phosphorylase, muscle associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,409,116...7,421,254

G

QKI, KH domain containing RNA binding

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,732,575...4,883,386
Ensembl chr 1:4,735,514...4,883,392

G

Raf-1 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Glioma

NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829

G

RAS guanyl releasing protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,424,805...7,440,404
Ensembl chr 2:7,422,846...7,440,404

G

REST corepressor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:8,146,680...8,153,680
Ensembl chr 2:8,148,526...8,153,677

G

RELA proto-oncogene, NF-kB subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469

G

ret proto-oncogene

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412

G

ring finger protein 43

exacerbates

protein:decreased expression:brain, brainstem (human)

NCBI chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378

G

ROS proto-oncogene 1, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:44,409,877...44,535,784
Ensembl chr 1:44,410,351...44,534,874

G

ribosomal protein S6 kinase A4

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,751,965...7,765,301
Ensembl chr 2:7,751,968...7,765,260

G

regulator of telomere elongation helicase 1

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690

G

SAC3 domain containing 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,138,409...7,142,294
Ensembl chr 2:7,138,413...7,141,898

G

SCY1 like pseudokinase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438

G

serpin family E member 1

protein:increased expression:plasma

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

SET domain containing 9

ClinVar Annotator: match by term: Ependymoma

NCBI chr16:35,978,960...35,987,161
Ensembl chr16:35,980,201...35,996,722

G

SET domain bifurcated histone lysine methyltransferase 1

severity

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

NCBI chr 4:98,259,801...98,293,238
Ensembl chr 4:98,260,375...98,293,097

G

splicing factor 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,391,295...7,404,693
Ensembl chr 2:7,391,383...7,404,948

G

SH3 domain containing GRB2 like 1, endophilin A2

disease_progression
severity

protein:increased expression:cytoplasm,white matter:

NCBI chr 2:74,414,453...74,445,450
Ensembl chr 2:74,414,466...74,445,447

G

SH3 domain and tetratricopeptide repeats 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637

G

signal-induced proliferation-associated 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,566

G

sirtuin 2

treatment

NCBI chr 6:47,682,427...47,703,408
Ensembl chr 6:47,682,429...47,703,384

G

MHC class I antigen 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,938,211...22,942,735

G

solute carrier family 22 member 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,590,391...7,603,567
Ensembl chr 2:7,590,391...7,603,116

G

solute carrier family 22 member 12

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,557,822...7,565,801
Ensembl chr 2:7,558,535...7,565,751

G

solute carrier family 25 member 45

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,851,101...6,857,886
Ensembl chr 2:6,851,617...6,857,880

G

solute carrier family 39 member 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr12:7,759,732...8,204,249
Ensembl chr12:7,759,820...8,204,246

G

solute carrier family 44 member 1

DNA:gene fusion: :

NCBI chr 1:246,548,461...246,760,527
Ensembl chr 1:246,548,497...246,760,514

G

solute carrier family 5 member 5

CTD Direct Evidence: therapeutic

NCBI chr 2:59,869,157...59,885,086
Ensembl chr 2:59,869,155...59,885,266

G

solute carrier family 6 member 3

protein:decreased expression

NCBI chr16:79,186,114...79,220,302
Ensembl chr16:79,186,108...79,220,297

G

solute carrier family 7 member 5

ameliorates

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

G

sorting nexin 15

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,143,072...7,155,203
Ensembl chr 2:7,142,291...7,158,868

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729

G

SRY-box transcription factor 6

NCBI chr 2:42,447,391...43,068,824
Ensembl chr 2:42,453,681...43,068,325

G

speedy/RINGO cell cycle regulator family member C

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,030,881...7,059,455
Ensembl chr 2:7,030,733...7,058,967

G

sphingosine kinase 1

protein:increased expression:endothelial cell (rat)

NCBI chr12:5,114,946...5,122,580
Ensembl chr12:5,114,947...5,120,083

G

spindlin interactor and repressor of chromatin binding

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:8,227,335...8,239,508
Ensembl chr 2:8,226,058...8,239,459

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340

G

sprouty RTK signaling antagonist 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:125,744,643...125,764,342
Ensembl chr X:125,754,671...125,763,636

G

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

treatment

NCBI chr13:124,699,622...124,837,847
Ensembl chr13:124,791,751...124,837,841

G

stress induced phosphoprotein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,911,443...7,939,000
Ensembl chr 2:7,911,445...7,939,005

G

stathmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:83,356,404...83,362,546
Ensembl chr 6:83,356,412...83,362,500

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:42,797,309...42,811,457
Ensembl chr X:42,797,828...42,811,461

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,601...43,032,654

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:13,715,644...14,201,711

G

synoviolin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,070,903...7,072,811
Ensembl chr 2:7,070,906...7,072,809

G

synoviolin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,059,444...7,066,617
Ensembl chr 2:7,059,462...7,066,601

G

transcription activation suppressor

ClinVar Annotator: match by term: Ependymoma

NCBI chr13:38,491,048...38,557,256
Ensembl chr13:38,492,472...38,557,193

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:18021753 PMID:19578367

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276

G

tigger transposable element derived 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,865,008...6,867,940
Ensembl chr 2:6,865,374...6,866,789

G

transmembrane 7 superfamily member 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,075,068...7,081,432

G

tenascin C

protein:increased expression:brain

NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376

G

tumor necrosis factor

treatment

CTD Direct Evidence: marker/mechanism

PMID:11810046 PMID:22199285

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

PMID:16820965 PMID:19229339

NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450

G

tumor protein p53

ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

TNF receptor associated factor 3

ClinVar Annotator: match by term: Ependymoma

G

tripartite motif containing 29

CTD Direct Evidence: marker/mechanism

NCBI chr 9:47,256,314...47,284,104
Ensembl chr 9:47,256,317...47,284,006

G

tRNA methyltransferase activator subunit 11-2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,802,184...7,803,556
Ensembl chr 2:7,802,275...7,803,552

G

transient receptor potential cation channel subfamily M member 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:143,718,295...143,856,968
Ensembl chr 1:143,709,864...143,855,984

G

tRNA phosphotransferase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,876,028...7,887,589
Ensembl chr 2:7,883,945...7,888,133

G

transient receptor potential cation channel subfamily V member 4

CTD Direct Evidence: marker/mechanism

NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578

G

TSC complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262

G

VHL binding protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:125,485,357...125,506,781
Ensembl chr X:125,480,808...125,506,771

G

vascular endothelial growth factor B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,872,873...7,876,149
Ensembl chr 2:7,872,870...7,876,118

G

VPS51 subunit of GARP complex

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,081,607...7,094,898
Ensembl chr 2:7,081,608...7,098,641

G

X-box binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,016,526

G

X-ray repair cross complementing 1

susceptibility

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

PMID:23534771 PMID:25227852

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

G

X-ray repair cross complementing 3

susceptibility

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

G

YEATS domain containing 4

NCBI chr 5:33,626,816...33,649,633
Ensembl chr 5:33,626,818...33,649,627

G

zinc finger protein like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,099,227...7,103,581
Ensembl chr 2:7,098,766...7,103,536

G

zinc finger translocation associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:8,282,040...8,292,265
Ensembl chr 2:8,282,127...8,288,190

G

zinc finger HIT-type containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:7,074,657...7,076,657
Ensembl chr 2:7,075,360...7,076,644

G

zinc ribbon domain containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:6,680,832...6,684,564
Ensembl chr 2:6,683,057...6,684,494

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 chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890

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 chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127

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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

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

NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710

G

epithelial cell adhesion molecule

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653

G

neurofibromin 1

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

PMID:25741868 PMID:28492532

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

RAD54 like

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr 6:165,156,833...165,184,641
Ensembl chr 6:165,152,978...165,184,776

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 chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668

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)

NCBI chr 5:39,329,628...39,363,699
Ensembl chr 5:39,328,052...39,363,711

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 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950

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:

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

cyclin dependent kinase 4

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

NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

death domain associated protein

disease_progression

NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110

G

proprotein convertase subtilisin/kexin type 1

protein:increased expression:insulinoma (rat)

NCBI chr 2:103,004,794...103,050,707
Ensembl chr 2:103,004,794...103,050,839

Islet Cell Tumor Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

farnesyltransferase, CAAX box, beta

ClinVar Annotator: match by term: Chromaffinoma

NCBI chr 7:89,052,451...89,131,075
Ensembl chr 7:89,052,507...89,131,072

G

MYC associated factor X

ClinVar Annotator: match by term: Chromaffinoma

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

NCBI chr 7:89,142,966...89,168,265
Ensembl chr 7:89,142,969...89,168,201

G

myelin protein zero

ClinVar Annotator: match by term: Chromaffinoma

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

NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925

G

ret proto-oncogene

ClinVar Annotator: match by term: Chromaffinoma

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

NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412

G

succinate dehydrogenase complex assembly factor 2

ClinVar Annotator: match by term: Chromaffinoma

NCBI chr 2:10,074,965...10,088,185
Ensembl chr 2:10,072,920...10,088,117

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 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Chromaffinoma

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

NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118

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 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950

G

transmembrane protein 127

ClinVar Annotator: match by term: Chromaffinoma

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

NCBI chr 3:46,966,858...47,017,659
Ensembl chr 3:46,966,892...46,978,810

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Chromaffinoma

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

NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654

Labrune Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate 12-lipoxygenase, 12R type

ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts

NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,526...53,302,993

G

transmembrane protein 107

ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts

PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 More...

NCBI chr12:53,394,500...53,397,064
Ensembl chr12:53,393,332...53,397,064

Lambert-Eaton myasthenic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 A

NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182

G

calcium voltage-gated channel subunit alpha1 B

G

cholinergic receptor muscarinic 1

NCBI chr 2:8,858,765...8,872,042

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

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

collagen type IV alpha 3 chain

severity

mRNA:decreased expression:lung (human)

NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122

G

cAMP responsive element binding protein 5

severity

mRNA:decreased expression:lung (human)

NCBI chr18:43,840,553...44,264,514
Ensembl chr18:43,844,942...44,261,031

G

menin 1

ClinVar Annotator: match by term: Lung carcinoid tumor

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

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

protein tyrosine phosphatase receptor type B

severity

mRNA:decreased expression:lung (human)

NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289

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...

G

beta-2-microglobulin

ClinVar Annotator: match by term: Lung oat cell carcinoma

NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

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 chr14:99,929,590...100,021,619

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 chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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

NCBI chr 5:17,314,322...17,350,726
Ensembl chr 5:17,314,276...17,350,722

G

adenylate cyclase 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:50,043,572...50,143,549
Ensembl chr18:50,051,364...50,143,628

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...

G

apolipoprotein A1

treatment

NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713

G

apolipoprotein C3

treatment

NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533

G

achaete-scute family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:81,357,431...81,360,335
Ensembl chr 5:81,358,969...81,359,673

G

ATM serine/threonine kinase

susceptibility

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

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552

G

ATRX chromatin remodeler

disease_progression

PMID:29748005 PMID:31374064

RGD:127285382 RGD:127285383

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

vasopressin

CTD Direct Evidence: marker/mechanism

NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,234...32,583,185

G

axin 2

disease_progression

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

NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200

G

beta-2-microglobulin

ClinVar Annotator: match by term: Small cell lung carcinoma

NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582

G

BCL2 apoptosis regulator

susceptibility

DNA:SNP: :rs2279115(human)

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

BCL2 associated transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,183...27,902,974

G

cyclin D1

disease_progression

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

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin dependent kinase inhibitor 1B

protein:increased expression:lung

NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831

G

chromodomain Y like

CTD Direct Evidence: marker/mechanism

NCBI chr 7:2,845,903...2,967,537
Ensembl chr 7:2,846,090...2,966,240

G

cholinergic receptor nicotinic alpha 3 subunit

susceptibility

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

PMID:20124469 PMID:22280835

RGD:150527851 RGD:151347453

NCBI chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,899...47,384,303

G

cholinergic receptor nicotinic alpha 5 subunit

mRNA:increased expression:lung

NCBI chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841

G

cholinergic receptor nicotinic alpha 9 subunit

susceptibility

DNA:SNPs:multiples:

NCBI chr 8:31,430,933...31,456,385
Ensembl chr 8:31,443,043...31,456,384

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:lung

NCBI chr 7:47,338,819...47,359,064

G

creatine kinase B

CTD Direct Evidence: marker/mechanism

G

contactin associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:109,740,510...111,781,144

G

collagen type XXII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 4:4,069,045...4,313,198
Ensembl chr 4:4,069,076...4,313,195

G

collagen type IV alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

colony stimulating factor 1 receptor

exacerbates

protein:increased expression:lung (human)

NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753

G

cytochrome P450 family 24 subfamily A member 1

susceptibility

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

NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363

G

disco interacting protein 2 homolog C

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,770,149...69,141,876
Ensembl chr10:68,770,164...69,141,871

G

delta like canonical Notch ligand 4

treatment

NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411

G

DNA methyltransferase 3 beta

susceptibility

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

NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072

G

E2F transcription factor 1

disease_progression
treatment

mRNA, protein:increased expression:lung

PMID:11313916 PMID:23792570 PMID:24755270

RGD:13464335 RGD:13464337 RGD:13464344

NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883

G

eukaryotic translation elongation factor 2

protein:increased expression:lung (human)

NCBI chr 2:74,746,541...74,756,687
Ensembl chr 2:74,747,080...74,756,680

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

ELAV like RNA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,964,070...199,135,815
Ensembl chr 1:198,964,132...199,135,811

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760

G

EPH receptor A7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:60,771,567...60,944,092
Ensembl chr 1:60,771,572...60,944,038

G

FAT atypical cadherin 1

DNA:mutations:multiple (human)

NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

forkhead box A1

disease_progression

NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220

G

glutamate ionotropic receptor kainate type subunit 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:92,880,297...93,128,048
Ensembl chr 6:92,880,303...93,128,569

G

glutamate metabotropic receptor 8

CTD Direct Evidence: marker/mechanism

NCBI chr18:20,945,049...21,756,952
Ensembl chr18:20,951,003...21,758,568

G

gastrin releasing peptide

disease_progression

protein:increased expression:serum (human)

NCBI chr 1:161,708,815...161,721,986
Ensembl chr 1:161,708,812...161,721,782

G

inhibitor of DNA binding 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:127,500,759...127,503,207
Ensembl chr 3:127,500,763...127,503,257

G

INSM transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:28,379,529...28,382,554
Ensembl chr17:28,379,880...28,381,427

G

integrin subunit beta 1

disease_progression
treatment

PMID:12168902 PMID:21063403

RGD:13792831 RGD:13792832

NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,396...56,173,326

G

lysine demethylase 6A

DNA:mutations:multiple: (human)

NCBI chr X:39,953,764...40,154,197
Ensembl chr X:39,953,814...40,154,029

G

KH-type splicing regulatory protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:72,656,951...72,668,854
Ensembl chr 2:72,656,752...72,668,964

G

kinesin family member 21A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:70,888,999...71,029,832
Ensembl chr 5:70,889,000...71,029,809

G

KIT proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884

G

lysine methyltransferase 2D

disease_progression

DNA:missense mutations, insertion/deletion:plasma

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

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

NCBI chr 5:15,049,827...15,091,622

G

laminin subunit alpha 3

DNA:hyper-methylation:promoter:

NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690

G

laminin subunit beta 3

DNA:hyper-methylation:promoter:

NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197

G

laminin subunit gamma 2

DNA:hyper-methylation:promoter:

NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351

G

LYR motif containing 9

CTD Direct Evidence: marker/mechanism

NCBI chr12:44,271,407...44,289,687
Ensembl chr12:44,271,524...44,289,612

G

MYC associated factor X

DNA:loss of heterozygosity:lung

NCBI chr 7:89,142,966...89,168,265
Ensembl chr 7:89,142,969...89,168,201

G

methylenetetrahydrofolate reductase

severity

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

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

mechanistic target of rapamycin kinase

disease_progression

DNA:SNP: :rs2536(human)

NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888

G

MYC proto-oncogene, bHLH transcription factor

disease_progression

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: therapeutic

NCBI chr 6:95,696,086...95,702,627
Ensembl chr 6:95,696,094...95,702,648

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335

G

notch receptor 1

treatment

G

polybromo 1

disease_progression

NCBI chr13:34,689,718...34,821,117
Ensembl chr13:34,689,726...34,820,952

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

phosphoinositide-3-kinase regulatory subunit 1

disease_progression

DNA:SNPs: :rs3756668,rs12755(human)

NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609

G

phospholipid scramblase 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:86,542,279...86,573,665
Ensembl chr13:86,542,283...86,573,629

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Small cell lung carcinoma

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

NCBI chr14:99,929,590...100,021,619

G

protein tyrosine kinase 2

disease_progression

DNA:CNV::

PMID:20802517 PMID:21800286

RGD:13825133 RGD:13825141

NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054

G

RAD52 homolog, DNA repair protein

treatment
susceptibility

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

PMID:26629180 PMID:27531263

RGD:151660337 RGD:151660339

NCBI chr 5:68,140,846...68,223,587
Ensembl chr 5:68,143,646...68,169,670

G

retinoic acid receptor beta

DNA:methylation: :

NCBI chr13:12,336,387...12,507,688
Ensembl chr13:12,336,972...12,507,680

G

Ras association domain family member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:47,729,747...47,847,470
Ensembl chr 5:47,729,751...47,847,452

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Small cell lung carcinoma

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

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

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)

PMID:27863413 PMID:31454632

RGD:152995447 RGD:152995517

NCBI chr16:24,109,934...24,250,019
Ensembl chr16:24,109,939...24,311,132

G

regulating synaptic membrane exocytosis 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:32,999,615...33,613,413
Ensembl chr 4:32,999,618...33,614,366

G

RUNX1 partner transcriptional co-repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:44,600,292...44,745,954
Ensembl chr 4:44,599,760...44,743,418

G

SATB homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,417...103,158,232

G

S-phase kinase associated protein 2

mRNA:increased expression:lung:

NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,509,310

G

slit guidance ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,149,510

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435

G

transmembrane protein 132D

CTD Direct Evidence: marker/mechanism

NCBI chr14:25,144,440...25,919,018
Ensembl chr14:25,144,430...25,913,052

G

tumor protein p53

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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

tumor protein p73

DNA:mutations:multiple: (human)

NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990

G

transthyretin

protein:increased expression:lung (human)

NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977

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 6:83,688,709...83,714,516
Ensembl chr 6:83,686,391...83,714,439

G

exportin 5

severity

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

NCBI chr 7:38,530,704...38,569,558
Ensembl chr 7:38,531,919...38,569,582

G

zinc finger DBF-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:109,563,445...109,593,858
Ensembl chr15:109,578,473...109,589,813

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 chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544

G

adhesion G protein-coupled receptor B1

severity

NCBI chr 4:1,582,321...1,658,639
Ensembl chr 4:1,582,330...1,647,573

G

AKT serine/threonine kinase 1

disease_progression

G

AKT serine/threonine kinase 2

severity

NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,795...48,587,919

G

AKT serine/threonine kinase 3

severity

NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337

G

annexin A1

associated with Tuberous Sclerosis;mRNA:increased expression:brain

NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677

G

ATRX chromatin remodeler

severity
disease_progression

PMID:23765250 PMID:24810474

RGD:11040585 RGD:9586026

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

B-Raf proto-oncogene, serine/threonine kinase

onset

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

PMID:19794125 PMID:23817572 PMID:25346165

RGD:11069832 RGD:11567238

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

bromodomain containing 7

severity

protein:increased expression:brain:

NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,663

G

bone marrow stromal cell antigen 2

severity

NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697

G

cell adhesion molecule 2

severity

protein:decreased expression:brain

NCBI chr13:169,681,947...170,753,114
Ensembl chr13:169,688,958...170,014,005

G

calcium/calmodulin dependent protein kinase II gamma

disease_progression

NCBI chr14:76,535,095...76,632,381
Ensembl chr14:76,535,096...76,593,108

G

cyclin D1

severity

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

delta like canonical Notch ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:48,135,738...48,155,373
Ensembl chr 6:48,147,635...48,155,292

G

docking protein 2

disease_progression

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

NCBI chr14:6,176,487...6,180,895
Ensembl chr14:6,177,009...6,188,708

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

far upstream element binding protein 1

mRNA:increased expression:brain (human)

NCBI chr 6:135,281,474...135,319,055
Ensembl chr 6:135,281,521...135,318,714

G

G3BP stress granule assembly factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:71,236,025...71,276,111
Ensembl chr16:71,236,339...71,276,078

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788

G

hes related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845

G

interleukin 16

protein:increased expression:brain

NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346

G

KIAA1549

CTD Direct Evidence: marker/mechanism

NCBI chr18:10,676,845...10,829,487
Ensembl chr18:10,675,328...10,829,360

G

KRAS proto-oncogene, GTPase

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G12D(mouse)
sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R

PMID:16247081 PMID:23817572 PMID:24038521

RGD:13702858 RGD:1600476

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

large tumor suppressor kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604

G

large tumor suppressor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:1,225,523...1,265,970
Ensembl chr11:1,225,527...1,265,946

G

glutathione S-transferase P-like

susceptibility

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

NCBI chr 2:5,005,498...5,009,247

G

mitogen-activated protein kinase kinase 3

protein:increased expression, increased phosphorylation:brain

NCBI chr12:61,396,337...61,417,333
Ensembl chr12:61,396,369...61,417,321

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

matrix metallopeptidase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

MRE11 homolog, double strand break repair nuclease

severity

mRNA:decreased expression:brain tumor (human)

NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:49,528,275...49,660,471
Ensembl chr17:49,528,179...49,663,200

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335

G

NEDD8 ubiquitin like modifier

NCBI chr 7:75,069,947...75,085,905
Ensembl chr 7:75,070,161...75,085,899

G

neurofibromin 1

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

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

RGD:12743656 RGD:1302542

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

G

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882

G

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

protein:decreased expression,decreased activity:brain:

NCBI chr 1:16,202,859...16,249,879
Ensembl chr 1:16,198,223...16,249,531

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Astrocytic tumor

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

NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

solute carrier family 7 member 5

disease_progression

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

G

TIA1 cytotoxic granule associated RNA binding protein like 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:129,441,209...129,467,150
Ensembl chr14:129,441,211...129,467,112

G

tumor protein p53

susceptibility

DNA:nonsense mutation:cds:
ClinVar Annotator: match by term: Malignant astrocytoma

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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:16,429,625...16,449,581
Ensembl chr X:16,429,628...16,449,556

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)

NCBI chr 2:73,746,379...73,889,881
Ensembl chr 2:73,747,669...73,889,866

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 chr14:15,718,261...15,773,534
Ensembl chr14:15,718,678...15,760,767

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412

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 chr14:63,416,154...63,809,220

G

APC regulator of WNT signaling pathway

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

PMID:7661930 PMID:17238184

NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502

G

atonal bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545

G

BRCA1 associated protein 1

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

BRCA2 DNA repair associated

susceptibility

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

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

NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,152,043...25,162,578

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:24231268 PMID:31594641

NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,989...62,345,362

G

cyclin D1

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363

G

cyclin dependent kinase 6

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:16314645 PMID:19270706 PMID:23138228

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

cyclin dependent kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 1:268,277,083...268,280,493
Ensembl chr 1:268,276,841...268,281,052

G

CREB binding protein

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

catenin beta 1

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

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

NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311

G

DEAD-box helicase 3 X-linked

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr X:36,988,031...37,005,496
Ensembl chr X:36,988,031...37,018,202

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

G

elongator acetyltransferase complex subunit 1

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

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

NCBI chr 1:249,905,550...249,980,570
Ensembl chr 1:249,905,351...249,981,641

G

E1A binding protein p300

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351

G

estrogen receptor 2

CTD Direct Evidence: therapeutic

NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,612,905...55,749,784
Ensembl chr 9:55,612,901...55,749,778

G

forkhead box O3

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325

G

G protein-coupled receptor 161

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr 4:82,844,944...82,909,329
Ensembl chr 4:82,844,941...82,905,534

G

HIC ZBTB transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:48,167,861...48,172,540
Ensembl chr12:48,168,900...48,172,636

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 chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

insulin receptor substrate 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr17:11,002,818...11,109,974

G

lysine demethylase 4B

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

NCBI chr 2:73,746,379...73,889,881
Ensembl chr 2:73,747,669...73,889,866

G

lysine demethylase 4C

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

NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,419...215,507,800

G

L3MBTL histone methyl-lysine binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:7,257,806...7,277,633
Ensembl chr 5:7,253,644...7,277,576

G

L3MBTL histone methyl-lysine binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:33,198,295...33,319,477
Ensembl chr 1:33,198,301...33,319,399

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:31694585

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:95,696,086...95,702,627
Ensembl chr 6:95,696,094...95,702,648

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046

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 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

orthodenticle homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,579...186,038,229

G

platelet derived growth factor receptor alpha

severity

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:25576913

NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099

G

PRAME nuclear receptor transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Medulloblastoma

PMID:26822237 PMID:28492532

NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373

G

protein arginine methyltransferase 5

CTD Direct Evidence: therapeutic

NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989

G

patched 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:16301862 PMID:16419085 PMID:22952776 PMID:25741868 PMID:28492532

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

patched 2

NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648

G

Ras association domain family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,156...32,825,226

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:28492532

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

ret proto-oncogene

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412

G

S100 calcium binding protein A10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:97,261,752...97,272,517
Ensembl chr 4:97,261,815...97,272,513

G

S100 calcium binding protein A4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:96,088,102...96,091,160
Ensembl chr 4:96,088,201...96,091,156

G

S100 calcium binding protein A6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:96,098,264...96,099,686
Ensembl chr 4:96,098,525...96,099,684

G

secretogranin V

CTD Direct Evidence: marker/mechanism

NCBI chr 1:136,525,920...136,590,021
Ensembl chr 1:136,525,944...136,593,583

G

Scm polycomb group protein like 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,715,357...14,823,016
Ensembl chr X:14,717,606...14,823,413

G

splicing factor 3b subunit 2

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,049...6,294,639

G

S-phase kinase associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,509,310

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 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295

G

smoothened, frizzled class receptor

treatment

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898

G

SET and MYND domain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:47,944,220...48,009,606
Ensembl chr12:47,944,148...48,009,586

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

STE20 related adaptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,191,793...15,222,709
Ensembl chr12:15,191,782...15,223,558

G

SUFU negative regulator of hedgehog signaling

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

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

NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003

G

tumor protein p53

disease_progression

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

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

TSC complex subunit 2

DNA:polymorphism:intron

NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371

G

tubulin beta 4A class IVa

ClinVar Annotator: match by term: Classic medulloblastoma

NCBI chr 2:72,599,244...72,605,362
Ensembl chr 2:72,599,140...72,605,361

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:72,327,433...72,391,649
Ensembl chr 2:72,326,716...72,391,648

G

WRN RecQ like helicase

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,986...54,094,587

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 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046

melanoma and neural system tumor syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome

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

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

Meningeal Neoplasms

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: Meningeal Neoplasms

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

meninges sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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

G

aminolevulinate dehydratase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,850...254,027,508

G

BRCA1 associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

cystatin C

CTD Direct Evidence: marker/mechanism

NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590

G

cystatin B

CTD Direct Evidence: marker/mechanism

NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646

G

cathepsin L

CTD Direct Evidence: marker/mechanism

NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618

G

DNA methyltransferase 1

ClinVar Annotator: match by term: Meningioma

NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844

G

erythrocyte membrane protein band 4.1 like 3

NCBI chr 6:101,420,376...101,671,177
Ensembl chr 6:101,420,396...101,671,169

G

glutathione peroxidase 3

severity

NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026

G

glutathione S-transferase mu 3

DNA: deletion: intron 6

NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237

G

hepatocyte growth factor

disease_progression

protein:increased expression:brain:

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

lysine methyltransferase 2D

disease_progression

NCBI chr 5:15,049,827...15,091,622

G

MLLT10 histone lysine methyltransferase DOT1L cofactor

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,072,056...53,315,351
Ensembl chr10:53,072,056...53,314,862

G

MN1 proto-oncogene, transcriptional regulator

DNA:translocation

NCBI chr14:45,093,660...45,142,476
Ensembl chr14:45,096,485...45,140,570

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:SNP: :66A>G, (rs1801394) (human)

NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783

G

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

ClinVar Annotator: match by term: Meningioma

PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9643284 More...

NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Meningioma

PMID:2212004 PMID:3133569 PMID:3969118

Ensembl chr 5:8,986,462...9,007,435

G

progesterone receptor

CTD Direct Evidence: marker/mechanism

PMID:8008172 PMID:19731987 PMID:19747051

NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Meningioma

PMID:792966 PMID:12085208 PMID:17873882 PMID:19340001 PMID:19458356 More...

NCBI chr14:99,929,590...100,021,619

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)

NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048

G

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

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

PMID:29409008 PMID:35681054

NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,786,897...21,807,162

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

G

X-ray repair cross complementing 3

susceptibility

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

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)

NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695

G

fibroblast growth factor receptor 3

mRNA:decreased expression:skin (human)

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

sperm autoantigenic protein 17

mRNA,protein:increased expression:nucleus

NCBI chr 9:51,918,916...51,931,459
Ensembl chr 9:51,918,916...51,931,759

mismatch repair cancer syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

asteroid homolog 1

DNA:mutations:cds: (human)

NCBI chr13:1,435,714...1,457,733
Ensembl chr13:1,435,678...1,449,855

G

solute carrier family 22 member 9-like

DNA:mutations:cds: (human)

NCBI chr 2:8,512,804...8,534,321

G

mutL homolog 1

ClinVar Annotator: match by term: MMR DEFICIENCY

PMID:8872463 PMID:9377556 PMID:9927033 PMID:10422993 PMID:10713887 More...

NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757

G

mutS homolog 2

ClinVar Annotator: match by term: MMR DEFICIENCY

PMID:6096739 PMID:8566964 PMID:8592341 PMID:9288790 PMID:10080150 More...

NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585

G

mutS homolog 6

ClinVar Annotator: match by term: CHILDHOOD CANCER SYNDROME | ClinVar Annotator: match by term: MMR DEFICIENCY

PMID:2968408 PMID:4728327 PMID:10508506 PMID:10537275 PMID:10612827 More...

NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome
ClinVar Annotator: match by term: MMR DEFICIENCY

PMID:2440087 PMID:6144131 PMID:7628019 PMID:7629132 PMID:7632227 More...

NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628

G

DNA polymerase epsilon, catalytic subunit

DNA:SNP:CDS:rs4077170 (human)

NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547

G

ribonuclease T2

DNA:mutations:cds: (human)

NCBI chr 1:2,146,707...2,164,768

G

TATA-box binding protein associated factor, RNA polymerase I subunit B

DNA:mutations:cds: (human)

NCBI chr 3:126,527,381...126,586,403
Ensembl chr 3:126,527,385...126,586,274

G

transcription factor Dp-1

DNA:mutations:cds: (human)

NCBI chr11:78,755,472...78,778,312
Ensembl chr11:78,755,533...78,778,309

G

transforming growth factor beta receptor 2

DNA:mutations:cds: (human)

NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160

G

tumor protein p53

DNA:mutations:cds: (human)

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

Mismatch Repair Cancer Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutL homolog 1

ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1
ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1

PMID:7757073 PMID:8808596 PMID:8809606 PMID:8872463 PMID:8880570 More...

NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757

G

mutS homolog 2

ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1

PMID:6096739 PMID:8261515 PMID:8566964 PMID:8592341 PMID:9288790 More...

NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585

G

mutS homolog 6

ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1

PMID:2968408 PMID:4728327 PMID:10508506 PMID:10537275 PMID:10612827 More...

NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1

PMID:2440087 PMID:2648339 PMID:6144131 PMID:7628019 PMID:7629132 More...

NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628

Mismatch Repair Cancer Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 2

ClinVar Annotator: match by term: Mismatch repair cancer syndrome 2

PMID:8521394 PMID:8700523 PMID:9259192 PMID:9718327 PMID:10190329 More...

NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585

Mismatch Repair Cancer Syndrome 3

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: Mismatch repair cancer syndrome 3

PMID:2059188 PMID:5559809 PMID:9307272 PMID:9929971 PMID:10471527 More...

NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238

Mismatch Repair Cancer Syndrome 4

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: Mismatch repair cancer syndrome 4 | ClinVar Annotator: match by term: PMS2-related condition

PMID:2440087 PMID:7628019 PMID:7629132 PMID:7632227 PMID:7661930 More...

NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628

mixed glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

susceptibility

DNA:SNPs:multiple:multiple (human)

NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690

Nasopalpebral Lipoma Coloboma Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger DBF-type containing 2

ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome

PMID:23636874 PMID:27139419

NCBI chr15:109,563,445...109,593,858
Ensembl chr15:109,578,473...109,589,813

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 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

embryonic ectoderm development

CTD Direct Evidence: marker/mechanism

NCBI chr 9:20,123,077...20,158,747
Ensembl chr 9:20,123,857...20,158,816

G

forkhead box R2

CTD Direct Evidence: marker/mechanism

NCBI chr X:48,174,318...48,181,106
Ensembl chr X:48,178,487...48,179,434

G

hepatocyte growth factor

protein:increased expression: :

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

MET proto-oncogene, receptor tyrosine kinase

disease_progression

protein:increased expression:tumor (human)

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

PMID:20176786 PMID:25240281

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

phosphatase and tensin homolog

disease_progression

NCBI chr14:99,929,590...100,021,619

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:25240281 PMID:25305755

NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,601...43,032,654

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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)

NCBI chr12:42,874,705...42,920,438
Ensembl chr12:42,874,599...42,920,399

G

AXL receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,245,802...49,277,917
Ensembl chr 6:49,245,673...49,277,914

G

cyclin dependent kinase inhibitor 2A

DNA,protein:deletion,decreased expression: :

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

embryonic ectoderm development

CTD Direct Evidence: marker/mechanism

NCBI chr 9:20,123,077...20,158,747
Ensembl chr 9:20,123,857...20,158,816

G

kinase insert domain receptor

mRNA:decreased expression:brain:

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

leucine zipper like post translational regulator 1

DNA:missense mutation:cds,multiple (human)

NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

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

DNA:loss of heterozygosity

NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:tumor (human)

NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293

G

serpin family E member 1

mRNA,protein:increased expression:schwann cell

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

SIX homeobox 1

mRNA:increased expression:Schwann cell (human)

NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651

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 chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048

G

synuclein alpha

protein:increased expression:cytoplasm

NCBI chr 8:129,247,724...129,388,307
Ensembl chr 8:129,248,819...129,271,128

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,601...43,032,654

G

WT1 transcription factor

CTD Direct Evidence: therapeutic

NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997

neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B (MDR/TAP), member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:93,049,955...93,146,469

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility

PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More...

NCBI chr 3:109,411,146...110,105,755

G

arachidonate 5-lipoxygenase activating protein

mRNA, protein:increased expression:neuroblastoma (human)

NCBI chr11:7,371,328...7,438,111
Ensembl chr11:7,411,644...7,438,108

G

AT-rich interaction domain 1A

DNA:mutations,loss of heterozygosity: :
CTD Direct Evidence: marker/mechanism

NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349

G

AT-rich interaction domain 1B

DNA:deletion,haploinsufficiency: :
CTD Direct Evidence: marker/mechanism

NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

PMID:23334666 PMID:26523776

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

aurora kinase A

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,954,838...56,972,435

G

BRCA1 associated RING domain 1

CTD Direct Evidence: marker/mechanism

PMID:19412175 PMID:23334666

NCBI chr15:117,049,483...117,135,889
Ensembl chr15:117,047,845...117,175,851

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr13:104,946,732...105,007,568

G

baculoviral IAP repeat containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Neuroblastoma

PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More...

NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418

G

CD44 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153

G

CD55 molecule (Cromer blood group)

NCBI chr 9:67,933,069...67,960,380

G

cyclin dependent kinase inhibitor 2A

treatment

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:24714808

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

chromatin assembly factor 1 subunit A

disease_progression

mRNA:increased expression: :

NCBI chr 2:74,380,706...74,411,875
Ensembl chr 2:74,380,709...74,411,825

G

chromodomain helicase DNA binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:67,017,410...67,086,685
Ensembl chr 6:67,017,417...67,086,711

G

chromodomain helicase DNA binding protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:44,048,056...44,265,472
Ensembl chr17:44,048,098...44,265,431

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290

G

dopamine beta-hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552

G

dedicator of cytokinesis 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363

G

FA complementation group A

ClinVar Annotator: match by term: Neuroblastoma

PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More...

NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More...

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Neuroblastoma

PMID:26822237 PMID:28492532

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021

G

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:70,994,033...71,104,998
Ensembl chr 1:70,993,342...71,105,012

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,459,971...16,462,207

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:26121086

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

interferon beta 1

CTD Direct Evidence: therapeutic

NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495

G

insulin like growth factor 1 receptor

protein: decreased tyrosine phosphorylation: : Y1131

NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058

G

insulin like growth factor 2 mRNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:25,196,955...25,244,660
Ensembl chr12:25,197,058...25,243,272

G

interleukin 18

susceptibility

NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219

G

ISL LIM homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907

G

kinesin family member 1B

susceptibility

ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1

PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 More...

NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

lin-28 homolog B

CTD Direct Evidence: marker/mechanism

PMID:22941191 PMID:23042116

NCBI chr 1:71,173,291...71,296,131
Ensembl chr 1:71,159,251...71,296,217

G

baculoviral IAP repeat-containing protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854

G

interleukin-1 beta-like

CTD Direct Evidence: marker/mechanism

G

mitogen-activated protein kinase kinase 4

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238

G

mitogen-activated protein kinase kinase 7

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 2:71,299,010...71,308,432
Ensembl chr 2:71,298,325...71,308,124

G

menin 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

mitochondrially encoded cytochrome c oxidase II

CTD Direct Evidence: marker/mechanism

NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890

G

mitochondrial fission process 1

severity

mRNA:increased expression:neural tissue (human)

NCBI chr14:47,392,578...47,396,115
Ensembl chr14:47,392,665...47,396,727

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999

G

MYC proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Neuroblastoma

PMID:25157968 PMID:26619011

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046

G

NME/NM23 nucleoside diphosphate kinase 1

NCBI chr12:27,416,308...27,435,044
Ensembl chr12:27,416,346...27,436,140

G

neuronatin

CTD Direct Evidence: marker/mechanism

NCBI chr17:40,625,990...40,629,523

G

nodal growth differentiation factor

mRNA:increased expression:neural tissue (human)

NCBI chr14:73,350,358...73,357,064
Ensembl chr14:73,353,258...73,360,654

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Neuroblastoma

PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More...

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

nuclear receptor binding SET domain protein 1

severity

DNA:hypermethylation:promoter:CpG islands (human)

NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059

G

5'-nucleotidase ecto

CTD Direct Evidence: therapeutic

NCBI chr 1:54,400,786...54,450,743
Ensembl chr 1:54,400,810...54,448,742

G

neurotrophic receptor tyrosine kinase 1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:8433391 PMID:16989911

NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981

G

neurotrophic receptor tyrosine kinase 2

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882

G

p21 (RAC1) activated kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:47,869,604...47,914,185
Ensembl chr 6:47,869,577...47,914,182

G

platelet and endothelial cell adhesion molecule 1

human tumor in mouse model

NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293

G

PHD finger protein 6

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr X:110,249,010...110,311,503
Ensembl chr X:110,249,010...110,303,017

G

paired like homeobox 2B

exacerbates

human cell line in a mouse model
ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

PTEN induced kinase 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 6:78,863,195...78,884,663
Ensembl chr 6:78,863,190...78,884,640

G

PRAME nuclear receptor transcriptional regulator

severity

mRNA:increased expression:neural tissue (human)

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

proteasome 26S subunit, non-ATPase 14

CTD Direct Evidence: marker/mechanism

NCBI chr15:68,107,379...68,208,884
Ensembl chr15:68,162,532...68,208,883

G

patched 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:25741868 PMID:28492532

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Neuroblastoma

PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 More...

NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

protein tyrosine phosphatase non-receptor type 14

CTD Direct Evidence: marker/mechanism

NCBI chr 9:129,114,668...129,248,898
Ensembl chr 9:129,055,698...129,248,578

G

Ras association domain family member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:67,157,167...67,237,366
Ensembl chr 9:67,157,167...67,237,365

G

RNA binding motif protein 15

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 4:109,767,464...109,791,555
Ensembl chr 4:109,768,311...109,786,383

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469

G

sodium channel epithelial 1 subunit alpha

disease_progression

Low levels of methylation correlate with improved survival

NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Neuroblastoma

PMID:21979946 PMID:25741868 PMID:28492532

NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118

G

semaphorin 3B

CTD Direct Evidence: marker/mechanism

NCBI chr13:32,737,100...32,749,633
Ensembl chr13:32,740,802...32,749,621

G

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

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295

G

small nuclear ribonucleoprotein polypeptide E

severity

mRNA:decreased expression:neuroblastoma (human)

NCBI chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,523...64,567,007

G

T-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,878,662...36,887,513
Ensembl chr12:36,878,675...36,887,513

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324

G

tumor protein p53

ClinVar Annotator: match by term: Neuroblastoma

PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More...

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

tumor protein p73

no_association

NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990

G

TSC complex subunit 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951

G

TSC complex subunit 2

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603

G

zinc finger protein 276

ClinVar Annotator: match by term: Neuroblastoma

PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More...

NCBI chr 6:298,034...316,451
Ensembl chr 6:298,039...313,403

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 chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127

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 3:109,411,146...110,105,755

G

CAP-Gly domain containing linker protein family member 4

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 3:110,111,015...110,181,144
Ensembl chr 3:110,111,153...110,181,127

G

photoreceptor cilium actin regulator

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 3:110,209,100...110,220,608
Ensembl chr 3:110,209,535...110,218,348

G

TOG array regulator of axonemal microtubules 2

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 3:110,231,899...110,291,523
Ensembl chr 3:110,231,017...110,275,267

G

WD repeat domain 43

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 3:110,317,549...110,365,108
Ensembl chr 3:110,318,538...110,365,062

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 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

neuroendocrine carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

enolase 2

NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,930...63,809,410

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:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

BRCA1 associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

calreticulin

exacerbates

human cells and recombinant protein in a mouse model

NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132

G

cyclin dependent kinase inhibitor 1B

ClinVar Annotator: match by term: Neuroendocrine neoplasm

NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831

G

death domain associated protein

severity

CTD Direct Evidence: marker/mechanism

PMID:21252315 PMID:23954140

NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110

G

menin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415

G

somatostatin receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:61,890,560...61,900,567
Ensembl chr 7:61,890,563...61,894,978

G

somatostatin receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,783,401...7,789,483
Ensembl chr12:7,783,431...7,789,488

G

somatostatin receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:10,581,814...10,593,796
Ensembl chr 5:10,581,912...10,589,982

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578

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)

NCBI chr12:53,087,072...53,108,949
Ensembl chr12:53,098,964...53,108,214

G

KIT proto-oncogene, receptor tyrosine kinase

mRNA:increased expression:skin:

NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

G

neurofibromin 1

ClinVar Annotator: match by term: Neurofibroma

PMID:9783703 PMID:10712197 PMID:12807981 PMID:16199547 PMID:16835897 More...

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,601...43,032,654

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 chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

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 | ClinVar Annotator: match by term: Neurofibromatosis type 6

PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More...

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

sprouty related EVH1 domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis

PMID:17704776 PMID:24469042 PMID:25741868 PMID:28492532

NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742

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 chr12:45,752,848...45,761,850
Ensembl chr12:45,755,559...45,761,878

G

ArfGAP with dual PH domains 2

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:42,817,683...42,864,594
Ensembl chr12:42,817,669...42,849,922

G

ankyrin repeat domain 13B

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:45,787,661...45,806,003
Ensembl chr12:45,787,684...45,805,999

G

ATPase family AAA domain containing 5

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:42,874,705...42,920,438
Ensembl chr12:42,874,599...42,920,399

G

bleomycin hydrolase

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:46,342,502...46,393,642
Ensembl chr12:46,342,503...46,393,484

G

coronin 6

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:45,806,007...45,814,594
Ensembl chr12:45,806,004...45,814,574

G

carboxypeptidase D

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:46,462,203...46,533,032
Ensembl chr12:46,462,265...46,533,022

G

cytokine receptor like factor 3

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:42,933,417...42,991,395
Ensembl chr12:42,933,445...42,976,348

G

crystallin beta A1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:45,466,051...45,473,110
Ensembl chr12:45,466,520...45,473,092

G

EF-hand calcium binding domain 5

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:46,085,215...46,204,806
Ensembl chr12:46,085,521...46,205,060

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 chr12:43,543,020...43,548,586
Ensembl chr12:43,543,214...43,549,498

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 chr12:43,553,891...43,561,759
Ensembl chr12:43,553,898...43,561,755

G

gamma-aminobutyric acid type B receptor subunit 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

NCBI chr 7:22,547,938...22,577,639
Ensembl chr 7:22,540,381...22,578,619

G

GIT ArfGAP 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:45,768,172...45,783,652
Ensembl chr12:45,768,176...45,783,658

G

golgi SNAP receptor complex member 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:46,541,124...46,597,075
Ensembl chr12:46,541,229...46,597,071

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

PMID:190611 PMID:1071297 PMID:1302608 PMID:1370276 PMID:1483690 More...

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

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

ClinVar Annotator: match by term: Neurofibromatosis, type 1

NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

nuclear speckle splicing regulatory protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:46,211,202...46,271,509
Ensembl chr12:46,211,256...46,271,345

G

nuclear FMR1 interacting protein 2

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:45,473,687...45,506,587
Ensembl chr12:45,473,685...45,506,581

G

ring finger protein 135

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897

G

solute carrier family 6 member 4

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378

G

sprouty related EVH1 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742

G

slingshot protein phosphatase 2

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:45,818,103...46,085,720
Ensembl chr12:45,823,002...46,015,446

G

TAO kinase 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:45,597,067...45,750,117
Ensembl chr12:45,597,072...45,744,356

G

transcription elongation factor, mitochondrial

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:42,864,582...42,875,705
Ensembl chr12:42,864,612...43,047,444

G

transmembrane and immunoglobulin domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:46,411,943...46,429,996
Ensembl chr12:46,411,946...46,430,007

G

tumor protein p53 inducible protein 13

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr12:45,763,680...45,767,755
Ensembl chr12:45,763,614...45,768,156

G

vascular endothelial growth factor A

mRNA,protein:increased expression:dermis

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

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 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348

G

neurofibromin 1

ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome

PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More...

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome

PMID:22465605 PMID:28074573 PMID:28492532

NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

sprouty related EVH1 domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome

PMID:25741868 PMID:28492532

NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742

neurofibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

MAX interactor 1, dimerization protein

ClinVar Annotator: match by term: Neurofibrosarcoma

NCBI chr14:120,643,691...120,722,632
Ensembl chr14:120,643,830...120,724,099

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

vascular endothelial growth factor A

protein:increased expression:peripheral nerve

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

neuromyelitis optica

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 4

disease_progression

associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD Direct Evidence: marker/mechanism

PMID:16087714 PMID:18420727 PMID:18509235 PMID:20047900 PMID:22271321 More...

RGD:5148024 RGD:5148032 RGD:8695993 RGD:8696026 RGD:8696032 RGD:8696033 RGD:8696034

NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109

G

CD59 molecule

severity

NCBI chr 2:27,186,587...27,207,303

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592

G

interleukin 21

protein:increased expression:cerebrospinal fluid (human)

NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713

G

interleukin 6

severity

protein:increased expression:serum, cerebral spinal fluid:

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

myelin basic protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290

G

matrix metallopeptidase 9

protein:increased expression:serum

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

neurofilament heavy chain

protein:increased expression:serum:

NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088

G

neurofilament light chain

protein:increased expression:serum (human)

NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112

G

S100 calcium binding protein B

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 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349

G

cyclin dependent kinase 4

associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)

NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

cyclin dependent kinase 6

associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

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 chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

transmembrane protein 127

ClinVar Annotator: match by term: Intraocular melanoma

PMID:25741868 PMID:28492532

NCBI chr 3:46,966,858...47,017,659
Ensembl chr 3:46,966,892...46,978,810

olfactory neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hypoxia inducible factor 1 subunit alpha

severity

protein:increased expression:neuroblastoma (human)

NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845

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:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

calcium/calmodulin dependent protein kinase II beta

disease_progression

NCBI chr18:50,862,225...50,956,263
Ensembl chr18:50,861,466...50,956,225

G

capicua transcriptional repressor

ClinVar Annotator: match by term: Oligodendroglioma

NCBI chr 6:49,638,986...49,664,146
Ensembl chr 6:49,638,990...49,662,947

G

deltex E3 ubiquitin ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:38,559,705...38,599,790
Ensembl chr14:38,560,924...38,599,787

G

epidermal growth factor

susceptibility

DNA:polymorphism:promoter:GG genotypes were associated with increased risk.

NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Oligodendroglioma

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:21446021 More...

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

prostaglandin E synthase 3

protein:increased expression:brain cortex, white matter (human)

NCBI chr 5:22,000,335...22,022,830
Ensembl chr 5:22,000,341...22,021,660

G

RB transcriptional corepressor 1

disease_progression

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

Opsoclonus-Myoclonus Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418

G

sodium channel epithelial 1 subunit beta

ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome

NCBI chr 3:22,832,259...22,902,592
Ensembl chr 3:22,832,262...22,902,063

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome

PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More...

NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524

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 2:18,070,726...18,085,685
Ensembl chr 2:18,037,401...18,085,683

G

C-X3-C motif chemokine receptor 1

onset

associated with Neurofibromatosis 1

NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486

G

neurofibromin 1

susceptibility

associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma

PMID:10712197 PMID:16199547 PMID:21278392 PMID:23913538 PMID:25741868 More...

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

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

ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome

PMID:6641002 PMID:9054938 PMID:9148633 PMID:9536098 PMID:10441570 More...

NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900

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 chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418

G

cut like homeobox 1

exacerbates

protein:increased expression:pancreas (human)

NCBI chr 3:9,317,145...9,669,999
Ensembl chr 3:9,317,140...9,669,998

G

death domain associated protein

disease_progression

DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human)

NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834

G

placental growth factor

treatment
disease_progression

human cells in a mouse model
protein:increased expression:serum (human)

PMID:23463017 PMID:26861455

RGD:14349029 RGD:14349030

NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741

papillary tumor of the pineal region

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Papillary tumor of the pineal region

PMID:10866302 PMID:11051241 PMID:12614768 PMID:17942903 PMID:21194675 More...

NCBI chr14:99,929,590...100,021,619

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)

NCBI chr14:99,929,590...100,021,619

PERITONEAL GLIOMATOSIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc fragment of IgG, high affinity Ia, receptor (CD64)

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr 4:99,233,632...99,242,531
Ensembl chr 4:99,233,611...99,242,586

G

H2B clustered histone 18

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr 4:99,216,737...99,219,700
Ensembl chr 4:99,216,452...99,219,698

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 chr12:61,029,186...61,045,400
Ensembl chr12:61,031,157...61,045,392

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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

neurofibromin 1

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834

G

ret proto-oncogene

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:25741868 PMID:28492532

NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412

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 chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524

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 chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

pineoblastoma

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: Pineoblastoma

PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24909177 More...

NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224

pituitary adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

vasopressin receptor 1B

NCBI chr 9:66,769,472...66,776,916
Ensembl chr 9:66,772,591...66,776,931

G

cyclin dependent kinase inhibitor 1B

NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831

G

G protein-coupled receptor kinase 2

mRNA:altered expression:pituitary gland (human)

NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758

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

PMID:2200621 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17341560 More...

NCBI chr 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781

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 chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021

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 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781

G

chromosome 14 C10orf105 homolog

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 chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022

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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834

G

menin 1

ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

PMID:25741868 PMID:28492532

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

V-set immunoregulatory receptor

ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281

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 chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628

Pituitary Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin II receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105

G

cyclin dependent kinase inhibitor 1A

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761

G

cyclin dependent kinase inhibitor 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831

G

clusterin

treatment

NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764

G

dopamine receptor D2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599

G

estrogen receptor 2

mRNA:decreased expression:pituitary gland (human)

NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565

G

growth hormone releasing hormone

Adenoma; human gene in mouse model

NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857

G

GNAS complex locus

DNA:missense mutations: :p.201R>C, p.201R>H, p.227Q>R (human)

NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021

G

heterogeneous nuclear ribonucleoprotein K

mRNA:decreased expression:pituitary gland (rat)

NCBI chr10:30,975,639...30,987,955
Ensembl chr10:30,975,702...30,987,956

G

insulin like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033

G

interleukin 6 cytokine family signal transducer

NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220

G

menin 1

DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

protein kinase C alpha

DNA:point mutation:somatic:D294G

NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554

G

prolactin

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:2274009 PMID:3498743 PMID:6156259

NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710

G

RB transcriptional corepressor 1

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

serine and arginine rich splicing factor 1

mRNA:increased expression:pituitary gland (human)

NCBI chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162

pleomorphic xanthoastrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminoadipate-semialdehyde synthase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:24,938,366...25,039,197
Ensembl chr18:24,974,754...25,039,195

G

ATP-binding cassette, sub-family B (MDR/TAP), member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:93,049,955...93,146,469

G

ATP binding cassette subfamily B member 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:93,171,371...93,262,124

G

ATP binding cassette subfamily B member 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:89,620,783...89,751,876
Ensembl chr 9:89,632,204...89,738,606

G

abhydrolase domain containing 11

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,000,991...11,003,789
Ensembl chr 3:11,000,998...11,003,795

G

acetylcholinesterase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605

G

ADAM metallopeptidase domain 22

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:68,253,023...68,490,327
Ensembl chr 9:68,253,065...68,487,619

G

aarF domain containing kinase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:9,153,832...9,173,009
Ensembl chr18:9,153,839...9,173,007

G

adenylate cyclase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,043,572...50,143,549
Ensembl chr18:50,051,364...50,143,628

G

ADCYAP receptor type I

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:41,915,180...41,972,327
Ensembl chr18:41,917,428...41,972,301

G

AE binding protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,046,895...51,056,789
Ensembl chr18:51,046,899...51,056,698

G

AGBL carboxypeptidase 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,163,354...14,265,504
Ensembl chr18:14,164,658...14,262,611

G

ArfGAP with FG repeats 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,468,049...8,490,849
Ensembl chr 3:8,468,044...8,490,831

G

alkylglycerol monooxygenase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:84,551,874...84,931,146
Ensembl chr 9:84,551,889...84,894,843

G

anterior gradient 2, protein disulphide isomerase family member

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:86,042,070...86,053,893
Ensembl chr 9:86,041,369...86,053,857

G

adenosylhomocysteinase like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,260,226...19,441,839
Ensembl chr18:19,260,228...19,441,883

G

aryl hydrocarbon receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897

G

aldo-keto reductase family 1 member B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,593,516...14,752,316
Ensembl chr18:14,684,036...14,752,310

G

aldo-keto reductase family 1 member D1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,531,726

G

alkB homolog 4, lysine demethylase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,795,993...9,806,230
Ensembl chr 3:9,798,641...9,806,215

G

amphiphysin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:108,800,718...108,971,575
Ensembl chr 9:108,799,793...108,971,660

G

ankyrin repeat and IBR domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,184,805...72,328,765
Ensembl chr 9:72,184,815...72,328,763

G

ankyrin repeat and MYND domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:85,850,646...85,887,450
Ensembl chr 9:85,848,002...85,887,427

G

ankyrin repeat domain 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:28,098,184...28,109,802

G

anillin, actin binding protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:37,647,952...37,710,939
Ensembl chr18:37,647,961...37,708,575

G

acyloxyacyl hydrolase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:37,416,875...37,599,934
Ensembl chr18:37,416,966...37,599,710

G

adaptor related protein complex 1 subunit sigma 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,880,993...8,887,806
Ensembl chr 3:8,881,107...8,887,566

G

adaptor related protein complex 4 subunit mu 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,013,701...8,017,701
Ensembl chr 3:8,013,747...8,017,700

G

aquaporin 1 (Colton blood group)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746

G

ADP ribosylation factor 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,695,706...20,698,635
Ensembl chr18:20,694,966...20,698,726

G

ADP ribosylation factor like GTPase 4A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:82,224,985...82,228,951
Ensembl chr 9:82,225,272...82,231,900

G

armadillo repeat containing 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:103,179,754...103,210,658
Ensembl chr 9:103,179,503...103,262,014

G

actin related protein 2/3 complex subunit 1A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,296,257...6,324,526
Ensembl chr 3:6,296,278...6,324,524

G

actin related protein 2/3 complex subunit 1B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,329,737...6,342,641
Ensembl chr 3:6,220,939...6,342,637

G

ankyrin repeat and SOCS box containing 15

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:23,826,025...23,881,794
Ensembl chr18:23,825,970...23,859,250

G

ankyrin repeat and SOCS box containing 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:75,110,367...75,337,619
Ensembl chr 9:75,018,067...75,203,447

G

argininosuccinate lyase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,867

G

asparagine synthetase (glutamine-hydrolyzing)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:77,318,341...77,336,290
Ensembl chr 9:77,318,213...77,343,035

G

ankyrin repeat, SAM and basic leucine zipper domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:28,859,140...28,910,927
Ensembl chr18:28,859,112...28,910,934

G

ATP synthase membrane subunit f

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,389,338...6,396,960

G

ATPase H+ transporting V0 subunit a4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,868,208...10,966,801
Ensembl chr18:10,919,422...10,966,410

G

ATPase H+ transporting V1 subunit F

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,753,761...19,756,706
Ensembl chr18:19,753,506...19,756,648

G

ataxin 7 like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:105,464,614...105,925,637
Ensembl chr 9:105,464,484...105,799,064

G

activator of transcription and developmental regulator AUTS2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:13,565,439...14,794,365
Ensembl chr 3:13,565,281...14,794,365

G

AVL9 cell migration associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:40,663,728...40,739,115
Ensembl chr18:40,663,730...40,739,080

G

alpha-2-glycoprotein 1, zinc-binding

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:7,867,521...7,874,857

G

BAR/IMD domain containing adaptor protein 2 like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:5,472,305...5,567,926
Ensembl chr 3:5,472,315...5,567,876

G

bromodomain adjacent to zinc finger domain 1B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,761,461...10,843,918
Ensembl chr 3:10,761,499...10,843,840

G

Bardet-Biedl syndrome 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:39,663,720...40,394,244
Ensembl chr18:39,950,356...40,393,992

G

B cell receptor associated protein 29

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,292,273...107,337,464
Ensembl chr 9:107,292,309...107,351,981

G

BAF chromatin remodeling complex subunit BCL7B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,850,347...10,887,485
Ensembl chr 3:10,850,354...10,869,288

G

Bet1 golgi vesicular membrane trafficking protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:73,782,157...73,792,653
Ensembl chr 9:73,782,168...73,792,648

G

basic helix-loop-helix family member a15

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:5,410,467...5,414,074
Ensembl chr 3:5,410,518...5,414,072

G

biliverdin reductase A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,131,576...51,185,493
Ensembl chr18:51,131,584...51,185,435

G

BMP binding endothelial regulator

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:39,417,830...39,664,010
Ensembl chr18:39,412,838...39,663,592

G

base methyltransferase of 25S rRNA 2 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:32,798,278...32,900,769
Ensembl chr18:32,798,290...32,900,764

G

bisphosphoglycerate mutase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,555,919...14,593,321
Ensembl chr18:14,556,832...14,593,252

G

B-Raf proto-oncogene, serine/threonine kinase

onset

DNA:mutation:cds:p.V600E(human)
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

PMID:25346165 PMID:28299358

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

brain protein I3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:5,463,609...5,471,398
Ensembl chr 3:5,463,675...5,471,391

G

BUD23 rRNA methyltransferase and ribosome maturation factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,960,037...10,973,084
Ensembl chr 3:10,960,092...10,973,082

G

BUD31 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,355,249...6,361,211
Ensembl chr 3:6,355,244...6,361,207

G

basic leucine zipper and W2 domains 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:85,887,801...85,947,414
Ensembl chr 9:85,886,158...85,947,410

G

chromosome 18 C7orf25 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,924,285...51,928,154
Ensembl chr18:51,924,280...51,928,145

G

chromosome 18 C7orf57 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,451,099...48,473,246
Ensembl chr18:48,451,103...48,473,226

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:97,781,057...98,265,925
Ensembl chr 9:97,781,090...98,266,969

G

calcium dependent secretion activator 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:24,372,547...24,867,287
Ensembl chr18:24,372,544...24,867,482

G

calcitonin receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:73,279,874...73,403,516
Ensembl chr 9:73,279,879...73,403,436

G

caldesmon 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,267,955...14,486,641
Ensembl chr18:14,267,959...14,486,726

G

calumenin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,841,718...19,875,804
Ensembl chr18:19,841,719...19,875,786

G

calcium/calmodulin dependent protein kinase II beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,862,225...50,956,263
Ensembl chr18:50,861,466...50,956,225

G

capping actin protein of muscle Z-line subunit alpha 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:29,316,384...29,365,062
Ensembl chr18:29,310,759...29,365,143

G

CAS1 domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:74,276,533...74,347,608
Ensembl chr 9:74,276,908...74,347,588

G

cytosolic arginine sensor for mTORC1 subunit 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,956,289...12,039,913
Ensembl chr 3:11,956,300...12,039,978

G

caveolin 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465

G

caveolin 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277

G

Cbl proto-oncogene like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,456,261...107,474,615
Ensembl chr 9:107,456,603...107,474,611

G

chromobox 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:46,193,138...46,205,114
Ensembl chr18:46,193,140...46,204,714

G

coiled-coil domain containing 126

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:92,372,070...92,419,241
Ensembl chr 9:92,372,072...92,419,236

G

coiled-coil domain containing 136

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,793,764...19,824,855
Ensembl chr18:19,793,781...19,824,453

G

coiled-coil domain containing 146

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:102,784,299...102,919,758
Ensembl chr 9:102,787,551...102,919,686

G

coiled-coil domain containing 71 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:106,540,924...106,545,324
Ensembl chr 9:106,544,340...106,545,053

G

C-C motif chemokine ligand 24

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,347,397...10,361,500

G

C-C motif chemokine ligand 26

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132

G

chaperonin containing TCP1 subunit 6A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,843,801...16,858,819
Ensembl chr 3:16,843,804...16,858,819

G

CD36 molecule

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105

G

cell division cycle associated 7 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:90,766,767...90,807,287
Ensembl chr 9:90,766,795...90,806,865

G

cadherin related family member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:105,822,463...105,893,696
Ensembl chr 9:105,822,868...105,893,688

G

cyclin dependent kinase 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:54,310,311...54,430,060
Ensembl chr18:54,310,324...54,430,786

G

cyclin dependent kinase 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:70,678,012...71,310,253
Ensembl chr 9:70,499,873...71,310,250

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

centrosomal protein 41

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,416,170...18,462,579
Ensembl chr18:18,415,562...18,462,575

G

cilia and flagella associated protein 69

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:70,373,422...70,430,383
Ensembl chr 9:70,373,527...70,430,378

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950

G

coiled-coil-helix-coiled-coil-helix domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,812,409...16,819,130
Ensembl chr 3:16,812,404...16,819,124

G

coiled-coil-helix-coiled-coil-helix domain containing 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:16,052,611...16,348,998
Ensembl chr18:16,052,627...16,350,974

G

cholinergic receptor muscarinic 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,145...12,600,186

G

claudin 12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:70,499,770...70,510,082

G

claudin 15

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,931,099...8,937,189
Ensembl chr 3:8,931,097...8,937,184

G

claudin 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,019,073...11,020,102
Ensembl chr 3:11,019,073...11,020,102

G

claudin 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,039,711...11,053,930
Ensembl chr 3:11,039,706...11,053,925

G

C-type lectin domain family 2 member L

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,155,299...10,176,343
Ensembl chr18:10,160,032...10,176,289

G

CAP-Gly domain containing linker protein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,419,446...11,505,417

G

CCR4-NOT transcription complex subunit 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:13,821,573...13,980,533
Ensembl chr18:13,821,575...13,980,529

G

canopy FGF signaling regulator 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,026,997...8,031,685
Ensembl chr 3:8,027,054...8,031,927

G

cytochrome c oxidase assembly factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,220,759...51,310,989

G

cordon-bleu WH2 repeat protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:136,850,521...137,055,249

G

component of oligomeric golgi complex 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:106,993,771...107,273,889
Ensembl chr 9:106,990,573...107,273,607

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397

G

collagen type XXVI alpha 1 chain

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,003,126...9,164,074
Ensembl chr 3:9,003,743...9,158,130

G

COPI coat complex subunit gamma 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,209,378...18,331,536
Ensembl chr18:18,209,263...18,332,216

G

COP9 signalosome subunit 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,002,702...8,005,545
Ensembl chr 3:7,982,892...8,005,633

G

carboxypeptidase A1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,466,564...18,482,099
Ensembl chr18:18,469,921...18,476,327

G

carboxypeptidase A1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,482,886...18,536,376
Ensembl chr18:18,485,478...18,507,346

G

carboxypeptidase A2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,557,518...18,581,957
Ensembl chr18:18,557,518...18,577,682

G

carboxypeptidase A4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,528,998...18,553,944
Ensembl chr18:18,530,867...18,553,634

G

cadherin like and PC-esterase domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:25,655,730...25,937,923
Ensembl chr18:25,655,735...25,937,232

G

cleavage and polyadenylation specific factor 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,374,346...6,388,662
Ensembl chr 3:6,374,341...6,388,661

G

carboxypeptidase vitellogenic like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:43,559,619...43,690,951
Ensembl chr18:43,559,619...43,689,542

G

CGRP receptor component

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,528,949...16,622,005
Ensembl chr 3:16,584,311...16,622,069

G

cAMP responsive element binding protein 3 like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:11,533,184...11,666,132
Ensembl chr18:11,533,183...11,666,113

G

cAMP responsive element binding protein 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:43,840,553...44,264,514
Ensembl chr18:43,844,942...44,261,031

G

corticotropin releasing hormone receptor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467

G

carnitine O-octanoyltransferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:93,263,606...93,308,150
Ensembl chr 9:93,258,619...93,308,151

G

CDP-L-ribitol pyrophosphorylase A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750

G

cortactin binding protein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:28,130,213...28,573,166
Ensembl chr18:28,415,067...28,573,159

G

cut like homeobox 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,317,145...9,669,999
Ensembl chr 3:9,317,140...9,669,998

G

cytochrome c, somatic

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866

G

cytochrome P450 family 3 subfamily A member 22

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817

G

cytochrome P450 family 3 subfamily A member 29

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,738,502...6,778,121
Ensembl chr 3:6,738,486...6,778,944

G

cytochrome P450 family 51 subfamily A member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444

G

cell cycle regulator of NHEJ

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,127,724...14,133,486

G

DBF4-CDC7 kinase regulatory subunit

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:92,449,385...92,481,959
Ensembl chr 9:92,448,731...92,481,379

G

drebrin like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,713,335...48,725,692
Ensembl chr18:48,713,340...48,725,697

G

dopa decarboxylase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:136,496,364...136,571,220
Ensembl chr 9:136,496,365...136,571,212

G

DEAD-box helicase 56

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,705,613...50,714,967
Ensembl chr18:50,705,632...50,715,033

G

DENN domain containing 2A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:9,186,537...9,310,671
Ensembl chr18:9,186,903...9,310,665

G

diacylglycerol kinase beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:83,571,927...84,358,712
Ensembl chr 9:83,569,932...84,510,087

G

diacylglycerol kinase iota

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:11,705,055...12,187,098
Ensembl chr18:11,705,093...12,177,267

G

dihydrolipoamide dehydrogenase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583

G

distal-less homeobox 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:76,639,915...76,643,689
Ensembl chr 9:76,639,561...76,643,884

G

distal-less homeobox 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:76,623,489...76,630,296
Ensembl chr 9:76,625,117...76,630,275

G

cyclin D binding myb like transcription factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:93,416,451...93,463,129
Ensembl chr 9:93,416,455...93,463,031

G

dynein axonemal heavy chain 11

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,092...90,768,353

G

DnaJ heat shock protein family (Hsp40) member B9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:36,578,928...36,584,211
Ensembl chr18:36,579,453...36,584,130

G

DnaJ heat shock protein family (Hsp40) member C2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:103,329,873...103,362,599
Ensembl chr 9:103,329,881...103,362,608

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,951,173...10,959,935
Ensembl chr 3:10,955,877...10,959,916

G

dedicator of cytokinesis 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:33,423,199...33,879,368
Ensembl chr18:33,423,221...33,879,366

G

dpy-19 like C-mannosyltransferase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:38,801,343...39,084,190
Ensembl chr18:38,801,334...38,903,662

G

deltex E3 ubiquitin ligase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,880,586...9,925,866
Ensembl chr 3:9,888,561...9,925,850

G

dihydrouridine synthase 4 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,273,571...107,291,494
Ensembl chr 9:107,273,736...107,289,670

G

dynein cytoplasmic 1 intermediate chain 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:75,414,663...75,760,527
Ensembl chr 9:75,414,755...75,760,519

G

endonuclease/exonuclease/phosphatase family domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:37,824,450...37,948,855
Ensembl chr18:37,823,920...37,948,659

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

eukaryotic translation initiation factor 4H

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,321,486...11,348,473
Ensembl chr 3:11,320,797...11,348,473

G

endosome-lysosome associated apoptosis and autophagy regulator family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:93,540,846...93,724,739
Ensembl chr 9:93,540,277...93,723,880

G

engulfment and cell motility 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:36,755,026...37,336,095
Ensembl chr18:36,786,378...37,347,283

G

elastin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897

G

ependymin related 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:108,417,997...108,447,180
Ensembl chr 9:108,418,041...108,447,171

G

EPH receptor B4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783

G

erythropoietin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936

G

ETS variant transcription factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:83,322,818...83,567,136
Ensembl chr 9:83,322,823...83,418,902

G

even-skipped homeobox 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,327,711...45,331,204
Ensembl chr18:45,326,710...45,331,368

G

exocyst complex component 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:15,105,152...15,906,734
Ensembl chr18:15,105,138...15,906,707

G

family with sequence similarity 133 member B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,470,990...72,503,822
Ensembl chr 9:72,472,338...72,503,756

G

family with sequence similarity 180 member A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:13,574,024...13,589,117
Ensembl chr18:13,575,527...13,592,344

G

family with sequence similarity 185 member A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:102,919,943...103,001,102
Ensembl chr 9:102,919,961...102,969,691

G

family with sequence similarity 200 member A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,493,034...6,500,017
Ensembl chr 3:6,490,098...6,498,682

G

family with sequence similarity 221 member A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,384,514...48,403,632
Ensembl chr18:48,384,485...48,413,065

G

FAM3 metabolism regulating signaling molecule C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:25,569,356...25,612,072
Ensembl chr18:25,569,536...25,612,458

G

F-box and leucine rich repeat protein 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:102,976,987...103,179,379
Ensembl chr 9:102,976,871...103,152,572

G

F-box protein 24

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,511,426...8,528,743
Ensembl chr 3:8,511,459...8,523,121

G

Fer3 like bHLH transcription factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:88,316,353...88,323,221
Ensembl chr 9:88,321,883...88,322,377

G

FEZ family zinc finger 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:24,881,850...24,884,790
Ensembl chr18:24,879,031...24,884,917

G

fibrinogen like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:102,869,044...102,875,564
Ensembl chr 9:102,868,802...102,875,576

G

fidgetin like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:136,484,217...136,488,262
Ensembl chr 9:136,484,216...136,488,250

G

fission, mitochondrial 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,937,453...8,946,955

G

FKBP prolyl isomerase 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,903,100...42,913,609

G

FKBP prolyl isomerase family member 6 (inactive)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,659,456...10,716,210
Ensembl chr 3:10,669,664...10,682,618

G

FKBP prolyl isomerase 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:40,486,371...40,532,259
Ensembl chr18:40,481,565...40,532,262

G

filamin C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618

G

formation of mitochondrial complex V assembly factor 1 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,346,029...10,350,372
Ensembl chr18:10,346,032...10,350,339

G

forkhead box P2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:31,335,102...31,890,523
Ensembl chr18:31,335,264...31,888,845

G

fascin actin-bundling protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,684,621...20,693,552
Ensembl chr18:20,686,746...20,693,552

G

frizzled class receptor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:71,346,994...71,356,488
Ensembl chr 9:71,349,988...71,352,104

G

frizzled class receptor 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,753,294...10,762,812
Ensembl chr 3:10,754,783...10,757,147

G

galactose-3-O-sulfotransferase 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,162,909...8,168,810
Ensembl chr 3:8,162,912...8,168,637

G

polypeptide N-acetylgalactosaminyltransferase 17

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:15,026,350...15,450,625
Ensembl chr 3:15,026,772...15,450,615

G

golgi associated RAB2 interactor 1A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,919,703...19,945,287
Ensembl chr18:19,919,769...19,932,990

G

golgi associated RAB2 interactor 1B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,881,164...19,900,716
Ensembl chr18:19,881,444...19,901,594

G

glycyl-tRNA synthetase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162

G

GATA zinc finger domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,360,321...72,370,064
Ensembl chr 9:72,360,483...72,368,607

G

GRIP and coiled-coil domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,701,685...20,708,053
Ensembl chr18:20,701,737...20,707,138

G

gamma-glutamylcyclotransferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,410,734...42,418,534
Ensembl chr18:42,410,792...42,418,980

G

growth hormone releasing hormone receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184

G

GRB10 interacting GYF protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,584,546...8,600,126
Ensembl chr 3:8,584,552...8,594,284

G

gap junction protein gamma 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:7,843,398...7,849,864
Ensembl chr 3:7,839,151...7,848,761

G

GLI family zinc finger 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900

G

G protein subunit alpha i1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:100,187,878...100,272,274
Ensembl chr 9:100,187,843...100,272,532

G

G protein subunit alpha transducin 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:99,848,406...99,910,236
Ensembl chr 9:99,859,691...99,911,158

G

G protein subunit beta 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,579,037...8,585,268
Ensembl chr 3:8,579,122...8,584,266

G

G protein subunit gamma 11

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:73,721,327...73,726,229
Ensembl chr 9:73,721,322...73,726,222

G

G protein subunit gamma transducin 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:73,403,647...73,717,746
Ensembl chr 9:73,403,740...73,719,161

G

glypican 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,169,229...8,175,848
Ensembl chr 3:8,169,343...8,175,580

G

glycoprotein nmb

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:92,037,428...92,071,501
Ensembl chr 9:92,037,509...92,071,499

G

G protein-coupled receptor 22

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,202,301...107,211,340
Ensembl chr 9:107,205,411...107,211,078

G

G protein-coupled receptor 37

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:23,019,752...23,036,483
Ensembl chr18:23,019,749...23,038,356

G

G protein-coupled receptor 85

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:32,667,331...32,675,592
Ensembl chr18:32,667,488...32,672,740

G

growth factor receptor bound protein 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:136,580,363...136,742,552
Ensembl chr 9:136,580,362...136,741,756

G

glutamate metabotropic receptor 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:93,731,210...93,974,718
Ensembl chr 9:93,731,217...93,973,543

G

glutamate metabotropic receptor 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,945,049...21,756,952
Ensembl chr18:20,951,003...21,758,568

G

gamma-secretase activating protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:102,694,846...102,785,208
Ensembl chr 9:102,694,861...102,787,536

G

gasdermin E

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731

G

general transcription factor IIi

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,656,928...11,811,426
Ensembl chr 3:11,671,575...11,811,423

G

GTF2I repeat domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,538,183...11,654,795
Ensembl chr 3:11,538,314...11,654,770

G

glucuronidase beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,389...16,689,203

G

H2A.Z variant histone 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,533,382...50,548,341
Ensembl chr18:50,533,429...50,552,392

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:106,966,060...106,993,915
Ensembl chr 9:106,966,060...106,993,911

G

histone deacetylase 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:87,164,400...88,192,803
Ensembl chr 9:87,449,359...88,186,961

G

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,383,766...51,803,004
Ensembl chr18:51,387,836...51,802,945

G

HEPACAM family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:73,020,279...73,074,872
Ensembl chr 9:73,020,281...73,067,520

G

HERPUD family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:38,284,520...38,326,323
Ensembl chr18:38,284,520...38,326,311

G

hepatocyte growth factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

3-hydroxyisobutyrate dehydrogenase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347

G

hypoxia inducible lipid droplet associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,944,929...19,947,080
Ensembl chr18:19,944,930...19,947,080

G

huntingtin interacting protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,416,418...10,578,374
Ensembl chr 3:10,416,475...10,578,366

G

heterogeneous nuclear ribonucleoprotein A2/B1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856

G

homeobox A1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,477,561...45,480,306
Ensembl chr18:45,477,461...45,480,152

G

homeobox A10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,393,525...45,403,259
Ensembl chr18:45,393,885...45,403,257

G

homeobox A11

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,388,523...45,392,190
Ensembl chr18:45,388,375...45,391,953

G

homeobox A13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,373,340...45,379,046
Ensembl chr18:45,373,440...45,376,325

G

homeobox A2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,470,079...45,473,345
Ensembl chr18:45,470,862...45,473,876

G

homeobox A3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,421,542...45,467,803
Ensembl chr18:45,454,213...45,466,537

G

homeobox A4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,443,268...45,445,662

G

homeobox A5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,429,691...45,432,723
Ensembl chr18:45,421,663...45,432,885

G

homeobox A6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,423,530...45,429,947

G

homeobox A7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,417,137...45,419,113
Ensembl chr18:45,417,203...45,419,101

G

homeobox A9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,404,594...45,411,512
Ensembl chr18:45,408,375...45,411,509

G

heat shock protein family B (small) member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704

G

HUS1 checkpoint clamp component

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,522,914...48,539,267
Ensembl chr18:48,522,998...48,534,682

G

hyaluronidase 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:23,623,379...23,662,528
Ensembl chr18:23,625,399...23,660,792

G

hyccin PI4KA lipid kinase complex subunit 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:91,729,044...91,821,629
Ensembl chr 9:91,729,060...91,821,619

G

interferon related developmental regulator 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:33,198,002...33,248,912
Ensembl chr18:33,193,426...33,248,297

G

intraflagellar transport 22

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,977,497...8,981,635
Ensembl chr 3:8,976,306...8,981,510

G

intraflagellar transport 56

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,462,670...10,509,595
Ensembl chr18:10,462,669...10,509,565

G

insulin like growth factor 2 mRNA binding protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:92,104,786...92,272,264
Ensembl chr 9:92,104,848...92,272,211

G

insulin like growth factor binding protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799

G

insulin like growth factor binding protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690

G

IKAROS family zinc finger 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940

G

interleukin 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

inner mitochondrial membrane peptidase subunit 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:34,006,841...34,930,252
Ensembl chr18:34,006,900...34,907,287

G

inosine monophosphate dehydrogenase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,979,983...19,996,432
Ensembl chr18:19,979,983...19,996,429

G

inhibitor of growth family member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:25,946,529...25,976,528
Ensembl chr18:25,948,097...25,976,499

G

inhibin subunit beta A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr12:53,115,379...53,117,128
NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967

G

indolethylamine N-methyltransferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,213,335...42,218,175
Ensembl chr18:42,209,352...42,218,174

G

IQ motif and ubiquitin domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:23,902,954...24,014,626
Ensembl chr18:23,902,980...24,014,817

G

interferon regulatory factor 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243

G

integrin subunit beta 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:89,342,245...89,450,701
Ensembl chr 9:89,341,162...89,448,665

G

ITPR interacting domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:41,428,527...41,474,647
Ensembl chr18:41,456,829...41,589,002

G

ITPR interacting domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:41,491,840...41,768,828
Ensembl chr18:41,456,829...41,589,002

G

JAZF zinc finger 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:44,488,530...44,827,101
Ensembl chr18:44,488,511...44,827,091

G

kelch repeat and BTB domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:40,604,458...40,636,401
Ensembl chr18:40,604,558...40,637,085

G

potassium voltage-gated channel subfamily D member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:26,139,457...26,624,210
Ensembl chr18:26,139,457...26,623,233

G

kielin cysteine rich BMP regulator

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,689,111...19,741,641
Ensembl chr18:19,711,112...19,741,637

G

potassium channel tetramerization domain containing 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,382,333...16,393,861
Ensembl chr 3:16,385,006...16,393,841

G

lysine demethylase 7A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:9,581,468...9,664,750
Ensembl chr18:9,581,384...9,664,748

G

KIAA1549

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,676,845...10,829,487
Ensembl chr18:10,675,328...10,829,360

G

KLF transcription factor 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,147,124...18,149,177
Ensembl chr18:18,147,124...18,149,177

G

kelch domain containing 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,667,377...18,723,090
Ensembl chr18:18,667,365...18,723,067

G

kelch like family member 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695

G

killer cell lectin like receptor G2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,213,477...10,233,562
Ensembl chr18:10,213,758...10,234,121

G

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:104,876,301...105,007,161
Ensembl chr 9:104,911,821...105,007,084

G

karyopherin subunit alpha 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,167,382...6,201,282
Ensembl chr 3:6,167,385...6,200,982

G

KRIT1 ankyrin repeat containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661

G

laminin subunit beta 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269

G

laminin subunit beta 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,777,842...107,899,725
Ensembl chr 9:107,778,499...107,880,274

G

late endosomal/lysosomal adaptor, MAPK and MTOR activator 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,119,338...8,171,790
Ensembl chr 3:8,155,188...8,164,721

G

LanC like glutathione S-transferase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,550,752...48,593,055
Ensembl chr18:48,550,944...48,593,455

G

linker for activation of T cells family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,353,213...11,372,100
Ensembl chr 3:11,352,579...11,372,092

G

leptin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323

G

LHFPL tetraspan subfamily member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:104,269,664...104,828,686
Ensembl chr 9:104,275,423...104,827,405

G

LIM domain kinase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,252,820...11,279,286
Ensembl chr 3:11,252,648...11,279,284

G

long intergenic non-protein coding RNA 2860

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,811,294...45,812,778

G

leiomodin 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:23,803,927...23,815,772
Ensembl chr18:23,803,682...23,812,479

G

lemur tyrosine kinase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:5,322,238...5,409,223
Ensembl chr 3:5,322,255...5,409,171

G

zinc finger and SCAN domain-containing protein 21-like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr14:37,653,145...37,655,120

G

TSC22 domain family protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,390,945...8,406,240
Ensembl chr 3:8,395,229...8,406,218

G

ATP-binding cassette sub-family A member 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:135,104,047...135,452,477
Ensembl chr 9:135,115,078...135,451,812

G

paired immunoglobulin-like type 2 receptor beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,045,304...8,061,902

G

sterile alpha motif domain-containing protein 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,965,088...72,999,261
Ensembl chr 9:72,964,869...72,999,258

G

probable G-protein coupled receptor 141

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:36,611,676...36,662,600
Ensembl chr18:36,612,285...36,613,196

G

olfactory receptor 2AE1-like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:7,678,924...7,679,886

G

DNA-directed RNA polymerase II subunit RPB11-a pseudogene

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 6:107,462,166...107,462,817

G

general transcription factor II-I repeat domain-containing protein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,841,953...11,898,456

G

retinitis pigmentosa 9 protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:40,397,551...40,415,127
Ensembl chr18:40,539,046...40,564,228

G

putative RNA-binding protein Luc7-like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,268,077...10,333,227
Ensembl chr18:10,268,960...10,333,156

G

uncharacterized LOC110259374

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 2:76,648,079...76,651,850

G

leucine rich repeats and calponin homology domain containing 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,497,456...8,511,361
Ensembl chr 3:8,499,285...8,511,262

G

leucine rich repeats and guanylate kinase domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,957,257...15,074,978
Ensembl chr18:14,957,509...15,071,876

G

leucine rich repeat containing 17

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:103,062,653...103,099,886
Ensembl chr 9:103,062,667...103,094,350

G

leucine rich repeat containing 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,319,317...20,322,875
Ensembl chr18:20,319,701...20,322,848

G

leucine rich repeat containing 72

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:85,811,382...85,844,726
Ensembl chr 9:85,803,242...85,844,792

G

leucine rich repeats and death domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,094,221...72,142,939
Ensembl chr 9:72,094,065...72,140,882

G

leucine rich repeat neuronal 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:34,424,774...34,465,661
Ensembl chr18:34,425,836...34,465,665

G

leucine rich repeats and WD repeat domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,806,251...9,812,488
Ensembl chr 3:9,806,246...9,812,478

G

LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:40,752,390...40,755,909
Ensembl chr18:40,752,461...40,755,906

G

LSM8 homolog, U6 small nuclear RNA associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:28,124,116...28,130,375
Ensembl chr18:28,108,308...28,130,330

G

leucine rich single-pass membrane protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:33,184,167...33,190,910
Ensembl chr18:33,184,171...33,190,831

G

MET transcriptional regulator MACC1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:89,130,971...89,342,181
Ensembl chr 9:89,102,621...89,210,281

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:100,846,693...102,171,199
Ensembl chr 9:100,847,013...102,170,004

G

mitochondrial assembly of ribosomal large subunit 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:92,088,409...92,104,334
Ensembl chr 9:92,088,425...92,104,643

G

microtubule associated tyrosine carboxypeptidase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:37,714,857...37,793,059
Ensembl chr18:37,708,101...37,793,056

G

metallo-beta-lactamase domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,029,776...8,033,492
Ensembl chr 3:8,031,835...8,033,484

G

minichromosome maintenance complex component 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,005,890...8,014,047
Ensembl chr 3:8,005,900...8,014,053

G

MyoD family inhibitor domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:31,026,048...31,125,664
Ensembl chr18:31,027,056...31,125,465

G

malate dehydrogenase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,120,121...10,132,705
Ensembl chr 3:10,120,083...10,132,752

G

mesenchyme homeobox 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:84,945,178...85,009,939
Ensembl chr 9:84,943,199...85,010,157

G

methylphosphate capping enzyme

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,356,602...8,361,798
Ensembl chr 3:8,357,289...8,364,661

G

mesoderm specific transcript

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,319,126...18,358,655
Ensembl chr18:18,327,536...18,345,843

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

methyltransferase like 27

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,054,822...11,057,734
Ensembl chr 3:11,054,960...11,057,704

G

MINDY lysine 48 deubiquitinase 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,096,351...42,202,511
Ensembl chr18:42,096,353...42,200,694

G

microRNA mir-148a

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:46,415,213...46,415,280
Ensembl chr18:46,415,202...46,415,281

G

microRNA mir-183

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,982,269...18,982,338
Ensembl chr18:18,982,269...18,982,338

G

microRNA mir-29a

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,040,032...18,040,117
Ensembl chr18:18,040,032...18,040,118

G

microRNA mir-29b-1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,039,629...18,039,709
Ensembl chr18:18,039,629...18,039,709

G

microRNA mir-335

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,341,580...18,341,659
Ensembl chr18:18,341,568...18,341,659

G

microRNA mir-489

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:73,330,690...73,330,770
Ensembl chr 9:73,330,690...73,330,770

G

microRNA mir-96

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,982,506...18,982,590
Ensembl chr18:18,982,506...18,982,590

G

muskelin 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:17,493,806...17,832,519
Ensembl chr18:17,501,857...17,832,503

G

makorin ring finger protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:9,333,637...9,358,854
Ensembl chr18:9,333,684...9,358,849

G

MLX interacting protein like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,898,675...10,934,257
Ensembl chr 3:10,898,670...10,934,048

G

motile sperm domain containing 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,531,745...8,533,828
Ensembl chr 3:8,531,228...8,533,932

G

M-phase specific PLK1 interacting protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:54,283,315...54,285,823
Ensembl chr18:54,283,325...54,285,820

G

mitochondrial ribosomal protein L32

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,865,077...51,909,291

G

mitochondrial ribosomal protein S17

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,946,344...16,950,870

G

mitochondrial ribosomal protein S24

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,825,747...48,872,294
Ensembl chr18:48,825,782...48,830,609

G

mitochondrial transcription termination factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:71,287,587...71,853,866
Ensembl chr 9:71,845,662...71,853,845

G

myotrophin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:13,330,049...13,395,297
Ensembl chr18:13,330,029...13,395,460

G

maturin, neural progenitor differentiation regulator homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,767,452...42,802,109
Ensembl chr18:42,771,454...42,802,093

G

myosin light chain 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,187,808...9,198,476
Ensembl chr 3:9,187,812...9,198,493

G

myosin light chain 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,026,436...51,028,917
Ensembl chr18:50,979,167...51,029,844

G

myosin IG

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,466,450...50,483,520
Ensembl chr18:50,466,449...50,483,518

G

NAC alpha domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,385,116...50,394,787

G

nicotinamide phosphoribosyltransferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,586

G

N-acyl phosphatidylethanolamine phospholipase D

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:103,210,655...103,309,018
Ensembl chr 9:103,210,748...103,262,910

G

neutrophil cytosolic factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354

G

NADH:ubiquinone oxidoreductase subunit A5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:23,881,872...23,896,699
Ensembl chr18:23,881,966...23,900,855

G

NADH:ubiquinone oxidoreductase subunit B2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:9,135,359...9,150,513
Ensembl chr18:9,132,432...9,150,543

G

neuronal differentiation 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:41,757,356...41,763,837
Ensembl chr18:41,760,546...41,763,833

G

NFE2 like bZIP transcription factor 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:46,213,392...46,250,309
Ensembl chr18:46,217,517...46,250,256

G

nipsnap homolog 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,910,589...16,941,767
Ensembl chr 3:16,882,643...16,941,739

G

NME/NM23 family member 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:108,358,289...108,393,755
Ensembl chr 9:108,358,535...108,392,781

G

nucleotide binding oligomerization domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,464,667...42,509,135
Ensembl chr18:42,432,050...42,512,264

G

NPC1 like intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,726,854...50,757,676
Ensembl chr18:50,726,922...50,757,649

G

neuropeptide S receptor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:38,942,499...39,212,791
Ensembl chr18:38,942,487...39,085,754

G

neuronal pentraxin 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:5,720,686...5,732,458
Ensembl chr 3:5,720,680...5,732,454

G

neuropeptide VF precursor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:47,082,678...47,087,651
Ensembl chr18:47,082,963...47,087,357

G

neuropeptide Y

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667

G

neuronal cell adhesion molecule

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,928,866...108,248,018
Ensembl chr 9:107,928,866...108,247,593

G

nuclear respiratory factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628

G

NOP2/Sun RNA methyltransferase 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,632,670...10,642,063
Ensembl chr 3:10,632,677...10,642,061

G

5'-nucleotidase, cytosolic IIIA

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:40,440,890...40,483,043
Ensembl chr18:40,441,171...40,483,376

G

NudC domain containing 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,759,069...50,830,336
Ensembl chr18:50,759,221...50,830,332

G

nucleoporin 205

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:13,674,301...13,777,773
Ensembl chr18:13,674,312...13,811,976

G

nucleoporin 42

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:91,981,713...92,001,798
Ensembl chr 9:91,981,754...92,012,113

G

nuclear protein 2, transcriptional regulator

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,803,928...16,807,843
Ensembl chr 3:16,806,900...16,807,196

G

neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,408,698...8,418,499
Ensembl chr 3:8,408,729...8,417,096

G

oxoglutarate dehydrogenase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,609,415...50,684,990
Ensembl chr18:50,609,418...50,684,964

G

opsin 1, short wave sensitive

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,836,453...19,839,425
Ensembl chr18:19,836,453...19,839,425

G

ORAI calcium release-activated calcium modulator 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,782,626...9,796,761
Ensembl chr 3:9,784,078...9,796,755

G

origin recognition complex subunit 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:104,078,792...104,166,530
Ensembl chr 9:104,083,830...104,166,541

G

oxysterol binding protein like 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:47,298,303...47,491,248
Ensembl chr18:47,298,328...47,491,245

G

protein associated with LIN7 2, MAGUK p55 family member

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:47,589,547...47,711,433
Ensembl chr18:47,593,049...47,710,570

G

poly(ADP-ribose) polymerase family member 12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:9,673,841...9,715,169
Ensembl chr18:9,674,944...9,716,743

G

paired box 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,675,874...20,680,315
Ensembl chr18:20,673,114...20,680,287

G

piccolo presynaptic cytomatrix protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:97,114,503...97,513,081
Ensembl chr 9:97,114,511...97,513,072

G

procollagen C-endopeptidase enhancer

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,523,455...8,528,749
Ensembl chr 3:8,523,449...8,528,739

G

PDGFA associated protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,342,548...6,355,213
Ensembl chr 3:6,343,831...6,355,213

G

phosphodiesterase 1C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087

G

pyruvate dehydrogenase kinase 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:75,246,956...75,260,134
Ensembl chr 9:75,246,002...75,260,134

G

paternally expressed 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:74,474,121...74,486,983
Ensembl chr 9:74,474,107...74,486,979

G

peroxisomal biogenesis factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,385,755...72,444,718
Ensembl chr 9:72,385,475...72,444,582

G

phosphoglycerate mutase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,693,832...48,712,787
Ensembl chr18:48,710,347...48,713,862

G

phosphorylase kinase catalytic subunit gamma 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,822,042...16,831,054
Ensembl chr 3:16,822,043...16,834,329

G

putative homeodomain transcription factor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:102,221,033...102,348,748
Ensembl chr 9:102,221,326...102,348,696

G

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

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099

G

pleckstrin homology domain containing A8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,841,085...42,901,203
Ensembl chr18:42,820,921...42,902,867

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,911,787...8,919,525
Ensembl chr 3:8,911,791...8,919,516

G

plexin A4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:16,475,250...16,977,821
Ensembl chr18:16,427,673...16,973,768

G

peptidase, mitochondrial processing subunit beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:103,316,161...103,329,653
Ensembl chr 9:103,316,190...103,330,290

G

patatin like phospholipase domain containing 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:108,271,343...108,320,574
Ensembl chr 9:108,269,830...108,320,267

G

podocalyxin like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:17,444,339...17,494,507

G

DNA polymerase delta 2, accessory subunit

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,038,272...51,046,782
Ensembl chr18:51,038,358...51,046,779

G

DNA polymerase mu

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,077,845...51,091,354
Ensembl chr18:51,079,503...51,088,781

G

RNA polymerase I subunit F

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:88,760,394...88,785,802
Ensembl chr 9:88,760,398...88,785,802

G

RNA polymerase II subunit J

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,812,746...9,816,657
Ensembl chr 3:9,812,441...9,816,656

G

POM121 transmembrane nucleoporin C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,609,075...10,633,374

G

paraoxonase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723

G

paraoxonase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422

G

paraoxonase 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:74,983,040...75,017,947
Ensembl chr 9:74,991,277...75,017,942

G

POP7 homolog, ribonuclease P/MRP subunit

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,607,531...8,609,391
Ensembl chr 3:8,605,018...8,610,218

G

cytochrome p450 oxidoreductase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823

G

protection of telomeres 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890

G

POU class 6 homeobox 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511

G

peptidylprolyl isomerase A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,563,130...50,566,857

G

protein phosphatase 1 regulatory subunit 35

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,363,005...8,378,351
Ensembl chr 3:8,363,009...8,364,347

G

protein phosphatase 1 regulatory subunit 3A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:31,997,667...32,039,949
Ensembl chr18:31,997,713...32,039,852

G

protein phosphatase 1 regulatory subunit 9A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:74,635,285...74,944,050
Ensembl chr 9:74,635,403...74,940,362

G

protein kinase cAMP-dependent type II regulatory subunit beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:106,851,044...106,957,519
Ensembl chr 9:106,851,031...106,957,510

G

PRKR interacting protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,723,988...9,761,373
Ensembl chr 3:9,724,023...9,759,020

G

phosphoribosyl pyrophosphate synthetase 1 like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:87,161,863...87,164,314
Ensembl chr 9:87,163,252...87,164,208

G

proline rich 15

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:43,181,283...43,184,932
Ensembl chr18:43,181,290...43,184,555

G

proline rich transmembrane protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,018,407...20,029,684
Ensembl chr18:20,018,229...20,029,748

G

proteasome 20S subunit alpha 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,909,399...51,919,859
Ensembl chr18:51,909,473...51,921,238

G

proteasome 26S subunit, ATPase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:103,362,684...103,376,048
Ensembl chr 9:103,362,599...103,376,343

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952

G

pentatricopeptide repeat domain 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,360,713...6,374,180
Ensembl chr 3:6,360,732...6,371,382

G

pleiotrophin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,787...12,309,044

G

protein tyrosine phosphatase non-receptor type 12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:102,480,914...102,563,969
Ensembl chr 9:102,480,924...102,563,751

G

protein tyrosine phosphatase receptor type Z1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:25,046,027...25,228,276
Ensembl chr18:25,045,742...25,168,053

G

purine rich element binding protein B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,510,010...50,518,965
Ensembl chr18:50,510,182...50,511,108

G

pseudouridine synthase 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:105,325,762...105,388,972
Ensembl chr 9:105,325,763...105,388,928

G

PVR related immunoglobulin domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,230,311...8,232,840
Ensembl chr 3:8,230,328...8,232,836

G

RAB19, member RAS oncogene family

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:9,367,239...9,391,097
Ensembl chr18:9,364,451...9,384,083

G

RAB guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,308,112...16,376,604
Ensembl chr 3:16,308,120...16,376,592

G

RAS like proto-oncogene A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:54,548,523...54,630,746
Ensembl chr18:54,550,238...54,588,980

G

receptor activity modifying protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,319,795...50,366,757
Ensembl chr18:50,319,797...50,366,739

G

Rap guanine nucleotide exchange factor 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:90,958,078...91,232,256
Ensembl chr 9:90,958,078...91,578,992

G

RAS p21 protein activator 4B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,816,576...9,846,340

G

RNA binding motif protein 28

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,034,305...20,069,159
Ensembl chr18:20,034,334...20,072,938

G

RNA binding motif protein 48

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:72,444,811...72,453,990
Ensembl chr 9:72,444,828...72,456,397

G

RCC1 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,915,540...11,948,711
Ensembl chr 3:11,915,600...11,948,715

G

reelin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,863...103,963,883

G

replication factor C subunit 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,373,489...11,392,690
Ensembl chr 3:11,373,492...11,392,695

G

rhomboid domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,299,201...10,329,638
Ensembl chr 3:10,299,209...10,309,622

G

RAD50 interactor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:105,392,853...105,430,198
Ensembl chr 9:105,392,864...105,430,160

G

ring finger protein 133

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:24,530,956...24,533,936

G

ring finger protein 148

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:24,521,658...24,528,943

G

round spermatid basic protein 1 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:102,366,605...102,435,215
Ensembl chr 9:102,363,944...102,435,198

G

RUN domain containing 3B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:92,525,589...92,823,574
Ensembl chr 9:92,528,662...92,823,561

G

Sin3A associated protein 25

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,497,449...8,500,546
Ensembl chr 3:8,497,453...8,499,154

G

SBDS ribosome maturation factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,161,524...16,168,619
Ensembl chr 3:16,161,580...16,169,453

G

scinderin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:82,103,271...82,185,254
Ensembl chr 9:82,103,087...82,185,283

G

secernin 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,924,607...42,987,926
Ensembl chr18:42,924,409...42,987,923

G

succinate dehydrogenase complex assembly factor 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:76,699,512...76,771,834

G

SEC61 translocon subunit gamma

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:139,128,287...139,135,831
Ensembl chr 9:139,128,296...139,135,727

G

SEM1 26S proteasome subunit

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:76,324,550...76,349,261

G

semaphorin 3A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950

G

semaphorin 3C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:99,114,649...99,432,683
Ensembl chr 9:99,251,715...99,433,224

G

semaphorin 3D

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:95,280,637...95,486,109
Ensembl chr 9:95,280,593...95,486,090

G

semaphorin 3E

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072

G

septin 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,988,590...17,026,258
Ensembl chr 3:16,991,002...17,026,949

G

septin 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:38,082,626...38,183,354
Ensembl chr18:38,068,303...38,284,645

G

serpin family E member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

secreted frizzled related protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:108,404,314...108,414,335
Ensembl chr 9:108,404,040...108,414,307

G

sarcoglycan epsilon

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:74,402,714...74,473,904
Ensembl chr 9:74,402,717...74,473,910

G

SH2B adaptor protein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,670,838...9,695,325
Ensembl chr 3:9,670,815...9,695,629

G

src kinase associated phosphoprotein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:45,636,929...45,813,748
Ensembl chr18:45,637,360...45,790,259

G

solute carrier family 12 member 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,696,593...8,712,904
Ensembl chr 3:8,697,439...8,712,918

G

solute carrier family 13 member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:24,136,391...24,213,445
Ensembl chr18:24,011,108...24,219,235

G

solute carrier family 13 member 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:13,593,735...13,641,649
Ensembl chr18:13,593,756...13,636,180

G

solute carrier family 25 member 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:75,781,421...75,980,606
Ensembl chr 9:75,781,361...75,980,518

G

solute carrier family 25 member 40

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:92,481,524...92,526,729
Ensembl chr 9:92,481,564...92,528,186

G

solute carrier family 26 member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,480,629...107,518,771
Ensembl chr 9:107,480,641...107,518,728

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062

G

solute carrier family 26 member 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730

G

solute carrier family 35 member B4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,880,322...14,916,406
Ensembl chr18:14,880,765...14,911,468

G

solute carrier family 37 member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:9,383,770...9,442,787
Ensembl chr18:9,383,792...9,452,570

G

small lysine rich protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,189,966...19,200,030
Ensembl chr18:19,144,096...19,199,576

G

smoothened, frizzled class receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898

G

SMAD specific E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,037,732...6,142,569
Ensembl chr 3:6,037,741...6,142,575

G

staphylococcal nuclease and tudor domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,261,473...20,653,621
Ensembl chr18:20,261,476...20,653,590

G

sorting nexin 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:46,064,575...46,142,983
Ensembl chr18:46,064,580...46,142,945

G

sorting nexin 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:86,964,038...87,087,200
Ensembl chr 9:86,964,045...87,086,577

G

sclerostin domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:85,743,332...85,747,893
Ensembl chr 9:85,743,341...85,747,591

G

Sp4 transcription factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:90,337,355...90,410,529
Ensembl chr 9:90,337,449...90,410,268

G

Sp8 transcription factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:89,764,671...89,767,428
Ensembl chr 9:89,764,764...89,767,393

G

sperm adhesion molecule 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:23,589,947...23,598,739
Ensembl chr18:23,589,952...23,598,739

G

sperm microtubule inner protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:47,117,547...47,160,195
Ensembl chr18:47,117,601...47,160,344

G

sperm microtubule inner protein 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:136,189,235...136,224,000
Ensembl chr 9:136,188,608...136,235,985

G

sorcin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:68,492,235...68,515,247
Ensembl chr 9:68,490,890...68,515,322

G

SRSF protein kinase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:105,009,550...105,264,689
Ensembl chr 9:105,006,987...105,264,731

G

serine/arginine repetitive matrix 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,046,538...10,102,149
Ensembl chr 3:10,046,538...10,102,124

G

serrate, RNA effector molecule

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,717,782...8,731,204
Ensembl chr 3:8,717,785...8,731,201

G

scavenger receptor cysteine rich family member with 4 domains

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,960,696...9,974,330
Ensembl chr 3:9,961,120...9,974,320

G

serine rich single-pass membrane protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,604,054...18,613,285
Ensembl chr18:18,603,390...18,613,430

G

suppression of tumorigenicity 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:29,028,416...29,285,495
Ensembl chr18:29,027,811...29,285,505

G

STAG3 cohesin complex component

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,175,908...8,211,898
Ensembl chr 3:8,175,915...8,211,889

G

STARD3 N-terminal like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:108,631,239...108,675,617
Ensembl chr 9:108,631,256...108,676,183

G

STEAP family member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 5:8,996,943...8,997,498
NCBI chr 9:70,276,031...70,295,693
Ensembl chr 9:70,091,211...70,295,690

G

STEAP2 metalloreductase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:70,334,785...70,365,687
Ensembl chr 9:70,349,362...70,366,767

G

STEAP4 metalloreductase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:68,549,142...68,570,350
Ensembl chr 9:68,546,465...68,570,424

G

serine/threonine kinase 17a

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:51,325,438...51,362,181
Ensembl chr18:51,322,240...51,362,177

G

serine/threonine kinase 31

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,312,730...48,382,358
Ensembl chr18:48,312,730...48,388,464

G

short transmembrane mitochondrial protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr13:138,779,975...138,781,436

G

stimulated by retinoic acid 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,055,258...14,080,399
Ensembl chr18:14,055,258...14,080,399

G

striatin interacting protein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,209,047...19,255,671
Ensembl chr18:19,209,051...19,255,676

G

syntaxin 1A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,974,127...10,991,846
Ensembl chr 3:10,974,127...10,991,873

G

serine/threonine/tyrosine interacting like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,131,508...10,212,611
Ensembl chr 3:10,132,093...10,205,179

G

succinyl-CoA:glutarate-CoA transferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:53,639,588...54,283,272
Ensembl chr18:53,639,872...54,283,251

G

sulfatase modifying factor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,819,761...16,843,573
Ensembl chr 3:16,830,922...16,843,584

G

Sad1 and UNC84 domain containing 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,484,700...48,519,311
Ensembl chr18:48,485,037...48,519,230

G

SVOP like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,968,717...11,045,365
Ensembl chr18:10,968,790...11,043,021

G

synaptophysin like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:105,952,898...105,985,172
Ensembl chr 9:105,918,115...105,986,107

G

tachykinin precursor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:77,197,403...77,206,529
Ensembl chr 9:77,197,536...77,206,523

G

TATA-box binding protein associated factor 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,017,675...8,026,982
Ensembl chr 3:8,017,675...8,026,888

G

taste 2 receptor member 16

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:24,281,944...24,290,222
Ensembl chr18:24,286,430...24,287,332

G

Tax1 binding protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:44,827,908...44,910,265
Ensembl chr18:44,827,095...44,910,235

G

transducin beta like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,850,347...10,892,441
Ensembl chr 3:10,876,973...10,892,404

G

transforming growth factor beta regulator 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,366,896...50,378,086
Ensembl chr18:50,365,988...50,378,084

G

T-box transcription factor 20

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133

G

thromboxane A synthase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:9,717,291...9,886,699
Ensembl chr18:9,717,294...9,886,681

G

tectonin beta-propeller repeat containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:5,414,071...5,442,953
Ensembl chr 3:5,414,074...5,442,943

G

testin LIM domain protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:29,895,878...29,936,248
Ensembl chr18:29,895,882...29,936,233

G

testis expressed 47

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:69,016,462...69,019,241
Ensembl chr 9:69,018,248...69,019,009

G

transcription factor EC

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:29,980,394...30,260,226
Ensembl chr18:30,122,494...30,175,484

G

tissue factor pathway inhibitor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:73,684,236...73,694,663
Ensembl chr 9:73,673,535...73,689,095

G

transferrin receptor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,539,316...8,553,993
Ensembl chr 3:8,539,320...8,578,763

G

transferrin receptor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,554,322...8,568,774
Ensembl chr 3:8,539,320...8,578,763

G

THAP domain containing 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:36,584,359...36,592,255
Ensembl chr18:36,584,373...36,592,252

G

transmembrane p24 trafficking protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,698,819...50,702,333
Ensembl chr18:50,699,470...50,702,705

G

transmembrane protein 106B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:81,837,654...81,864,215
Ensembl chr 9:81,837,667...81,864,210

G

transmembrane protein 120A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,206,581...10,212,612
Ensembl chr 3:10,206,630...10,212,610

G

transmembrane protein 130

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:5,887,025...5,904,524
Ensembl chr 3:5,887,033...5,903,747

G

transmembrane protein 140

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,133,371...14,148,619
Ensembl chr18:14,133,374...14,148,618

G

transmembrane protein 168

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:32,928,104...32,960,884
Ensembl chr18:32,927,748...32,957,960

G

transmembrane protein 196

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:88,798,095...88,858,270
Ensembl chr 9:88,798,831...88,858,006

G

transmembrane protein 209

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,615,258...18,644,708
Ensembl chr18:18,615,258...18,644,708

G

transmembrane protein 213

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,862,193...10,868,584
Ensembl chr18:10,862,206...10,868,435

G

transmembrane protein 229A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:23,531,498...23,533,619
Ensembl chr18:23,531,536...23,532,648

G

transmembrane protein 243

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:93,393,695...93,416,634
Ensembl chr 9:93,393,722...93,416,627

G

transmembrane protein 248

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,253,018...16,296,796
Ensembl chr 3:16,253,022...16,280,465

G

transmembrane protein 270

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:11,059,177...11,079,858
Ensembl chr 3:11,075,901...11,078,442

G

transmembrane protein 60

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:102,349,033...102,354,642
Ensembl chr 9:102,349,019...102,354,640

G

transportin 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,572,555...19,673,165
Ensembl chr18:19,572,776...19,673,163

G

tensin 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,960,938...49,192,434
Ensembl chr18:48,997,217...49,192,433

G

translocase of outer mitochondrial membrane 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:91,570,069...91,578,991
Ensembl chr 9:91,570,065...91,579,015

G

tumor protein p53

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

tyrosylprotein sulfotransferase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,407,607...16,525,788
Ensembl chr 3:16,407,609...16,585,485

G

transformer 2 alpha homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:92,299,171...92,323,789
Ensembl chr 9:92,294,917...92,323,794

G

trafficking protein particle complex subunit 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,158,062...8,162,738
Ensembl chr 3:8,158,070...8,162,425

G

TLR4 interactor with leucine rich repeats

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:43,725,910...43,833,993

G

tripartite motif containing 24

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:11,055,211...11,151,755
Ensembl chr18:11,055,213...11,151,404

G

tripartite motif containing 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:7,815,188...7,837,587
Ensembl chr 3:7,815,725...7,837,546

G

tripartite motif containing 50

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,647,690...10,655,345
Ensembl chr 3:10,647,690...10,656,417

G

tripartite motif containing 56

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,834,260...8,842,524
Ensembl chr 3:8,834,274...8,839,415

G

thyroid hormone receptor interactor 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,713,221...8,716,891
Ensembl chr 3:8,713,215...8,716,871

G

transformation/transcription domain associated protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:5,903,205...6,029,343
Ensembl chr 3:5,909,022...6,029,333

G

TSC complex subunit 1

mRNA:decreased expression:brain

NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951

G

testis specific 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,190,893...18,209,077
Ensembl chr18:18,191,271...18,209,259

G

tetraspanin 12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:26,046,645...26,112,924
Ensembl chr18:26,046,703...26,112,918

G

tetraspanin 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:85,996,381...86,033,358
Ensembl chr 9:85,996,641...86,033,349

G

tetraspanin 33

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:19,493,610...19,514,361
Ensembl chr18:19,493,613...19,514,361

G

twist family bHLH transcription factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:88,286,911...88,290,131
Ensembl chr 9:88,289,407...88,290,015

G

tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:15,969,573...16,160,652

G

ubiquitin conjugating enzyme E2 D4 (putative)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,735,258...48,756,314
Ensembl chr18:48,733,395...48,756,291

G

ubiquitin conjugating enzyme E2 H

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,819,612...18,932,909
Ensembl chr18:18,819,641...18,932,904

G

ubinuclein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,371,121...10,451,243
Ensembl chr18:10,377,077...10,451,255

G

UFM1 specific peptidase 1 (inactive)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,731,271...8,732,289
Ensembl chr 3:8,731,277...8,732,278

G

uroplakin 3B like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,847,585...9,871,319

G

uridine phosphorylase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,418,385...48,440,414
Ensembl chr18:48,418,385...48,440,736

G

upregulator of cell proliferation

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,780,521...48,817,058
Ensembl chr18:48,780,576...48,821,582

G

VGF nerve growth factor inducible

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,888,502...8,891,399
Ensembl chr 3:8,888,506...8,891,601

G

vitamin K epoxide reductase complex subunit 1 like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,691,143...16,764,097
Ensembl chr 3:16,688,898...16,764,251

G

VOPP1 WW domain binding protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:48,607,923...48,693,858
Ensembl chr18:48,607,919...48,693,815

G

VPS37D subunit of ESCRT-I

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:10,947,403...10,951,271
Ensembl chr 3:10,947,403...10,951,273

G

VPS41 subunit of HOPS complex

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:55,293,655...55,466,628
Ensembl chr18:55,301,624...55,466,628

G

VPS50 subunit of EARP/GARPII complex

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:73,074,878...73,215,833
Ensembl chr 9:73,074,906...73,217,053

G

V-set and transmembrane domain containing 2A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:138,990,480...139,017,965
Ensembl chr 9:138,990,480...138,997,131

G

von Willebrand factor C domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:135,982,814...136,083,069
Ensembl chr 9:135,982,227...136,083,616

G

von Willebrand factor D and EGF domains

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:81,916,966...81,987,106
Ensembl chr 9:81,916,966...81,986,831

G

WASP like actin nucleation promoting factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:23,722,188...23,789,516
Ensembl chr18:23,722,188...23,789,506

G

WD repeat domain 91

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:14,092,265...14,124,127
Ensembl chr18:14,092,322...14,126,475

G

WAS/WASL interacting protein family member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,991,495...43,025,177
Ensembl chr18:42,991,498...43,071,266

G

Wnt family member 16

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:25,621,802...25,633,730
Ensembl chr18:25,621,794...25,633,731

G

Wnt family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:28,945,825...28,993,969
Ensembl chr18:28,946,326...28,993,961

G

YAE1 maturation factor of ABCE1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:54,656,517...54,663,207
Ensembl chr18:54,658,701...54,663,198

G

YKT6 v-SNARE homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,961,451...50,971,384
Ensembl chr18:50,960,113...50,971,384

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,994,802...10,023,296

G

zonadhesin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,638,422...8,668,881
Ensembl chr 3:8,632,701...8,668,880

G

zinc finger CCCH-type containing, antiviral 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,529,805...10,588,913
Ensembl chr18:10,531,897...10,588,832

G

zinc finger CCCH-type containing, antiviral 1 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:10,592,544...10,612,414
Ensembl chr18:10,593,184...10,611,031

G

zinc finger C3HC-type containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:18,740,817...18,761,515
Ensembl chr18:18,740,845...18,761,718

G

zinc finger CW-type and PWWP domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,318,683...8,356,195
Ensembl chr 3:8,323,191...8,358,487

G

zinc finger with KRAB and SCAN domains 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:7,920,640...7,959,462
Ensembl chr 3:7,920,675...7,942,498

G

zinc finger with KRAB and SCAN domains 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,442,315...6,464,718
Ensembl chr 3:6,442,391...6,466,430

G

zinc finger MIZ-type containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:50,579,650...50,598,921
Ensembl chr18:50,579,655...50,598,562

G

zinc finger protein 277

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:33,309,936...33,423,106
Ensembl chr18:33,311,321...33,423,795

G

zinc finger protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:7,971,917...7,982,693
Ensembl chr 3:7,971,922...7,982,668

G

zinc finger protein 655

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,504,699...6,521,051
Ensembl chr 3:6,504,690...6,521,844

G

zinc finger protein 713

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:16,957,875...16,983,838
Ensembl chr 3:16,958,562...16,983,693

G

zinc finger protein 789

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,468,709...6,481,537
Ensembl chr 3:6,471,470...6,481,392

G

zinc finger protein 800

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:20,834,519...20,858,614
Ensembl chr18:20,834,506...20,856,933

G

zinc finger protein 804B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:68,983,529...69,500,385
Ensembl chr 9:68,983,827...69,497,001

G

zinc finger HIT-type containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:8,918,873...8,926,595
Ensembl chr 3:8,918,872...8,926,589

G

zinc and ring finger 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr18:42,550,571...42,651,914
Ensembl chr18:42,549,846...42,651,807

G

zona pellucida glycoprotein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:9,934,760...9,944,924
Ensembl chr 3:9,934,761...9,944,941

G

zona pellucida binding protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 9:136,105,129...136,186,744
Ensembl chr 9:136,105,129...136,186,744

G

zinc finger and SCAN domain containing 25

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 3:6,563,495...6,583,370
Ensembl chr 3:6,569,304...6,579,150

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 6:49,245,802...49,277,917
Ensembl chr 6:49,245,673...49,277,914

G

neurofibromin 1

associated with severe combined immunodeficiency, human cells in mouse model

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

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 chr14:46,408,636...46,439,357
Ensembl chr14:46,408,649...46,439,453

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

G

PMS1 homolog 2, mismatch repair system component

CTD Direct Evidence: marker/mechanism

NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898

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 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951

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 chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

prolactinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

mRNA, protein:increased expression:pituitary gland
CTD Direct Evidence: marker/mechanism

PMID:12552124 PMID:16809920

NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637

G

CCAAT enhancer binding protein delta

CTD Direct Evidence: marker/mechanism

NCBI chr 4:79,872,863...79,874,481
Ensembl chr 4:79,872,939...79,874,477

G

15-hydroxyprostaglandin dehydrogenase

mRNA:decreased expression:pituitary gland

NCBI chr14:15,718,261...15,773,534
Ensembl chr14:15,718,678...15,760,767

G

LDL receptor related protein 2

ClinVar Annotator: match by term: Prolactinoma, familial

PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532

NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,303...75,716,694

G

menin 1

OMIM:600634

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

MYC proto-oncogene, bHLH transcription factor

mRNA:increased expression:pituitary gland (rat)

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

noggin

mRNA, protein:decreased expression:pituitary

NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206

G

neuropeptide Y receptor Y5

protein:increased expression:pars anterior

NCBI chr 8:52,173,906...52,183,336
Ensembl chr 8:52,174,434...52,183,341

G

prolactin

sexual_dimorphism

mRNA:increased expression:pituitary gland
protein:increased expression:blood serum (human)
CTD Direct Evidence: marker/mechanism

PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:12124824 More...

RGD:1642576 RGD:401960111 RGD:401976454

NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710

G

prostaglandin-endoperoxide synthase 2

mRNA:increased expression:pituitary gland

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

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

PMID:15300251 PMID:16155194 PMID:25741868 PMID:28492532

NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567

retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell adhesion molecule 2

mRNA, protein:decreased expression:retina

NCBI chr13:169,681,947...170,753,114
Ensembl chr13:169,688,958...170,014,005

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

dicer 1, ribonuclease III

exacerbates

DNA:deletion:haploinsufficiency

NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224

G

FA complementation group M

ClinVar Annotator: match by term: Retinoblastoma

NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685

G

Fas cell surface death receptor

severity

protein:decreased expression:tumor (human)

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

interferon beta 1

ameliorates

NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495

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 chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917

G

lysine demethylase 1B

mRNA:increased expression:retina (human)

NCBI chr 7:13,846,283...13,902,912
Ensembl chr 7:13,845,942...13,901,255

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 chr11:19,216,305...19,220,913
Ensembl chr11:19,219,077...19,220,347

G

MYC associated factor X

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr 7:89,142,966...89,168,265
Ensembl chr 7:89,142,969...89,168,201

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 chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926

G

O-6-methylguanine-DNA methyltransferase

disease_progression

DNA:hypermethylation:promoter (human)

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:SNP::2756A>G(human)

NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 More...

NCBI chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190

G

neurofibromin 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

nudix hydrolase 15

ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More...

NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528

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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834

G

patched 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 More...

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

serpin family F member 1

treatment

human protein and tumor xenograft in a mouse model

NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470

G

synuclein gamma

NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,659...87,922,095

rosette-forming glioneuronal tumor

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: Rosette-forming glioneuronal tumor

PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More...

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

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

ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor

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

NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

ring finger protein 216

ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor

PMID:26822237 PMID:27626068

NCBI chr 3:4,158,447...4,329,458
Ensembl chr 3:4,158,450...4,329,378

Schopf-Schulz-Passarge syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 10A

ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome

PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More...

NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430

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

ClinVar Annotator: match by term: Schwannomatosis

PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More...

NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397

G

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

ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis

PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:25741868 More...

NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048

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 chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

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 chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048

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 chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397

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

NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571

G

checkpoint kinase 2

protein:decreased expression:testis

NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290

G

ectonucleoside triphosphate diphosphohydrolase 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:30,908,747...30,930,774
Ensembl chr17:30,908,252...30,934,083

G

Fas cell surface death receptor

mRNA, protein:decreased expression:testis

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

Fas ligand

mRNA, protein:increased expression:testis

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

fragile histidine triad diadenosine triphosphatase

protein:decreased expression::no expression observed in less mature seminomatous neoplastic tissues; re-expression seen in mature teratomatous tissues

NCBI chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817

G

hydroxymethylbilane synthase

mRNA:increased expression:tumor

NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868

G

HRas proto-oncogene, GTPase

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

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

inhibin subunit alpha

protein:increased expression:tumor

NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006

G

insulin receptor

mRNA:decreased expression:tumor:isoform B

NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104

G

junction plakoglobin

mRNA:increased expression:tumor:relative to normal tissue (p<0.01)

NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210

G

potassium voltage-gated channel subfamily E regulatory subunit 1

NCBI chr13:198,051,281...198,059,444
Ensembl chr13:198,051,282...198,059,296

G

potassium voltage-gated channel subfamily Q member 1

NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

G

KIT proto-oncogene, receptor tyrosine kinase

DNA:transversion:CDS:2467G>C, amino acid D816H

NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

G

KRAS proto-oncogene, GTPase

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

proliferating cell nuclear antigen

disease_progression

NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744

G

platelet derived growth factor receptor alpha

mRNA:splice variant:testis

NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441

G

podoplanin

NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996

G

phospholipase A and acyltransferase 3

mRNA:decreased expression:tumor:strong expression in normal tesis and preinvasive carcinoma in situ, no expression in malignant tumors

NCBI chr 2:8,410,540...8,444,604
Ensembl chr 2:8,413,388...8,444,595

G

POU class 5 homeobox 1

mRNA, protein:increased expression:testis
DNA:hypomethylation:promoter
protein:increased expression:chest

PMID:17549357 PMID:17785371 PMID:18162782

RGD:2292429 RGD:2292432 RGD:2292433

NCBI chr 7:23,564,654...23,570,691

G

protein arginine methyltransferase 5

protein:altered localization

NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989

G

RB transcriptional corepressor 1

protein:decreased expression:testis

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

SMAD family member 4

DNA, protein:insertion, decreased expression:1521insT

NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029

G

vascular endothelial growth factor A

disease_progression

protein:increased expression:testis

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

X-ray repair cross complementing 1

susceptibility

DNA:polymorphism: :p.R399Q

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

G

zinc finger protein 354A

mRNA:increased expression:testis

NCBI chr 2:79,670,436...79,690,546
Ensembl chr 2:79,670,479...79,690,537

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 chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Spermatocytic seminoma

PMID:12727991 PMID:19855393 PMID:25157968 PMID:31775759

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Spermatocytic seminoma

PMID:12727991 PMID:19855393 PMID:25157968 PMID:31775759

NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699

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

PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More...

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

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 chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182

Supratentorial Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PMS1 homolog 2, mismatch repair system component

CTD Direct Evidence: marker/mechanism

NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628

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 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224

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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

ret proto-oncogene

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 chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412

transverse myelitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 4

PMID:21771203 PMID:23999580

RGD:5148008 RGD:8696028

NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109

G

interleukin 6

protein:increased expression:serum, cerebral spinal fluid:

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

VPS37A subunit of ESCRT-I

ClinVar Annotator: match by term: Idiopathic transverse myelitis

PMID:25741868 PMID:28492532 PMID:29473047

NCBI chr17:4,949,632...5,014,842
Ensembl chr17:4,949,644...4,988,074

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 chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

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

RGD
OMIM
ClinVar

PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 More...

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

baculoviral IAP repeat containing 7

exacerbates

mRNA:increased expression:uvea (human)

NCBI chr17:62,351,663...62,356,220

G

BRCA2 DNA repair associated

susceptibility

DNA:mutations: :

NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418

G

C-reactive protein, pentraxin-related

disease_progression

NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218

G

cysteinyl leukotriene receptor 2

CTD Direct Evidence: marker/mechanism

PMID:27089179 PMID:33288675

NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015

G

eukaryotic translation initiation factor 1A X-linked

CTD Direct Evidence: marker/mechanism

NCBI chr X:16,429,625...16,449,581
Ensembl chr X:16,429,628...16,449,556

G

G protein subunit alpha 11

ClinVar Annotator: match by term: Uveal melanoma

PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More...

NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092

G

G protein subunit alpha q

ClinVar Annotator: match by term: Uveal melanoma

PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More...

NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,265...230,907,674

G

insulin like growth factor 1

disease_progression

NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033

G

jumonji domain containing 6, arginine demethylase and lysine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr12:4,809,014...4,819,853
Ensembl chr12:4,809,118...4,818,043

G

lysine demethylase 5B

severity

protein:increased expression:uvea (human)

NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,838...24,831,447

G

kinase insert domain receptor

disease_progression

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

methyl-CpG binding domain 4, DNA glycosylase

susceptibility

ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1

PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 PMID:32239153 More...

NCBI chr13:68,816,677...68,828,559
Ensembl chr13:68,816,679...68,828,580

G

melanoma cell adhesion molecule

disease_progression

NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083

G

phospholipase C beta 4

ClinVar Annotator: match by term: Uveal melanoma

NCBI chr17:17,915,984...18,402,540
Ensembl chr17:17,916,110...18,402,532

G

PRAME nuclear receptor transcriptional regulator

severity

mRNA:increased expression:uvea (human)

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

serpin family E member 1

treatment

human gene in mouse model

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

serpin family F member 1

severity

NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Uveal melanoma

PMID:25741868 PMID:26619011

NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105

G

transmembrane protein 127

ClinVar Annotator: match by term: Uveal melanoma

PMID:25741868 PMID:28492532

NCBI chr 3:46,966,858...47,017,659
Ensembl chr 3:46,966,892...46,978,810

G

vascular endothelial growth factor A

protein:increased expression:iris, ciliary body, vitreous body;

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

Vein of Galen Aneurysm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 14

ClinVar Annotator: match by term: Galen vein aneurysm

PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106

NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525

G

EPH receptor B4

ClinVar Annotator: match by term: Galen vein aneurysm

NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783

G

lysine acetyltransferase 6A

ClinVar Annotator: match by term: Galen vein aneurysm

NCBI chr17:11,002,818...11,109,974

G

Kell metallo-endopeptidase

ClinVar Annotator: match by term: Galen vein aneurysm

NCBI chr18:7,242,378...7,279,345
Ensembl chr18:7,259,144...7,279,328

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Galen vein aneurysm

PMID:28492532 PMID:30578106

NCBI chr 5:15,049,827...15,091,622

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

ClinVar Annotator: match by term: Galen vein aneurysm

NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421

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 chr14:46,469,462...46,520,175
Ensembl chr14:46,469,430...46,520,153

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 chr14:46,797,307...46,842,479
Ensembl chr14:46,797,317...46,842,459

G

chromosome 14 C22orf31 homolog

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:46,242,376...46,254,129

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 chr14:46,747,654...46,759,312
Ensembl chr14:46,747,579...46,758,167

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 chr14:45,995,628...46,008,290
Ensembl chr14:45,995,586...46,008,290

G

checkpoint kinase 2

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290

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 chr14:46,358,013...46,402,078
Ensembl chr14:46,358,008...46,402,076

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 chr14:46,408,636...46,439,357
Ensembl chr14:46,408,649...46,439,453

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 chr14:46,449,767...46,455,278
Ensembl chr14:46,449,787...46,455,276

G

HscB mitochondrial iron-sulfur cluster cochaperone

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:45,967,460...45,980,632
Ensembl chr14:45,967,502...45,980,622

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 chr14:46,254,248...46,323,355
Ensembl chr14:46,254,326...46,323,354

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 chr14:46,874,977...47,022,581
Ensembl chr14:46,875,050...47,023,487

G

neurofilament heavy chain

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088

G

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

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More...

NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

nipsnap homolog 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:46,624,368...46,641,453
Ensembl chr14:46,624,727...46,641,438

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 chr14:46,455,441...46,457,977
Ensembl chr14:46,455,448...46,457,975

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 chr14:46,403,146...46,411,217
Ensembl chr14:46,400,026...46,408,364

G

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

DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)

NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048

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 chr14:46,578,973...46,624,237
Ensembl chr14:46,579,838...46,623,501

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 chr14:46,783,340...46,786,140
Ensembl chr14:46,783,325...46,786,140

G

vascular endothelial growth factor A

PMID:19587327 PMID:20406973

RGD:8547955 RGD:8547957

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

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 chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,016,526

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 chr14:46,758,436...46,783,055
Ensembl chr14:46,758,442...46,782,969

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 chr14:46,092,000...46,241,327
Ensembl chr14:46,092,062...46,241,321

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 1:201,515,835...201,516,477
Ensembl chr 1:201,515,809...201,516,488

G

menin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

somatostatin

CTD Direct Evidence: therapeutic

NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,418...125,338,850

Term paths to the root

Path 1
Term	Annotations
disease	17412
disease of cellular proliferation	7152
Neoplasms by Site	6635
Nervous System Neoplasms	1529
Central Nervous System Neoplasms +	1355
Nervous System Paraneoplastic Syndromes +	17
nervous system benign neoplasm +	697
nervous system cancer +	891
peripheral nervous system neoplasm +	169

paths to the root