Germ Cell and Embryonal 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:	Germ Cell and Embryonal Neoplasms	go back to main search page
Accession:	DOID:9000457	browse the term
Definition:	Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS.
Synonyms:	exact_synonym:	Germ Cell and Embryonic Neoplasms; Neoplasms, Embryonal and Mixed; germ cell and embryonal neoplasm
	narrow_synonym:	Embryonal Neoplasms; Germ Cell Neoplasms; Germ Cell Tumor; Germ Cell Tumors; embryo neoplasm; embryonal neoplasm; germ cell neoplasm; germ cell tumour
	primary_id:	MESH:D009373

show annotations for term's descendants Sort by:
Rat (613) Mouse (728) Human (14308) Chinchilla (515) Bonobo (549) Dog (560) Squirrel (529) Pig (549) Green Monkey (541) Naked Mole-rat (516) All
Genes (568) QTL (7) Strains (7) Cell Lines (31)

Germ Cell and Embryonal Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

disease_progression

RGD

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

alpha-fetoprotein

RGD

NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480

G

alkaline phosphatase, biomineralization associated

protein:increased expression:testis

RGD

NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446

G

activating transcription factor 7 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650

G

baculoviral IAP repeat-containing 5

protein:increased expression:ovary

RGD

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

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

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

G

cyclin D2

mRNA, protein:increased expression:testis

RGD

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

G

cyclin E1

mRNA, protein:decreased expression:testis

RGD

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

G

CD9 molecule

CTD Direct Evidence: marker/mechanism

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

G

cadherin 13

DNA:hypermethylation:promoter

RGD

NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459

G

cyclin-dependent kinase 4

protein:increased expression:testis

RGD

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

G

cyclin-dependent kinase inhibitor 2A

associated with Testicular Neoplasms;DNA:missense mutation, deletion, polymorphism:cds, intron:p.A140T

RGD

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

G

doublesex and mab-3 related transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333

G

developmental pluripotency-associated 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861
Ensembl chr 5:155,815,296...155,854,861

G

erb-b2 receptor tyrosine kinase 2

RGD

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

G

ERCC excision repair 1, endonuclease non-catalytic subunit

CTD Direct Evidence: marker/mechanism

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

G

ERCC excision repair 4, endonuclease catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369

G

fragile histidine triad diadenosine triphosphatase

protein:decreased expression:testis

RGD

NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340

G

growth differentiation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937

G

H19 imprinted maternally expressed transcript

DNA:hypomethylation:promoter

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

inhibin subunit alpha

DNA:SNP

RGD

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

G

junction plakoglobin

protein:increased expression:testis

RGD

NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057

G

KIT proto-oncogene receptor tyrosine kinase

DNA:mutations:exon (human)
DNA:missense mutations: :multiple (human)

RGD

PMID:18006222 PMID:17768701

RGD:2302174, RGD:2302175

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

G

KIT ligand

CTD Direct Evidence: marker/mechanism

PMID:19483681 PMID:19483682

NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214

G

LDL receptor related protein 6

RGD

NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497

G

mutL homolog 1

DNA, protein:hypermethylation, decreased expression:testis

RGD

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

mutS homolog 2

disease_progression

RGD

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

G

Nanog homeobox

CTD Direct Evidence: marker/mechanism

NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116

G

NME/NM23 nucleoside diphosphate kinase 2

mRNA:increased expression:testis

RGD

NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538

G

proliferating cell nuclear antigen

disease_progression

RGD

NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995

G

platelet derived growth factor receptor alpha

mRNA:splice variant:testis
mRNA:alternative form:testis

RGD

PMID:8610136 PMID:11920744

RGD:2292154, RGD:2298580

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

G

podoplanin

mRNA:increased expression:testis

RGD

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

G

polyhomeotic homolog 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

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

G

ras homolog family member A

disease_progression

protein:increased expression:testis
mRNA:increased expression:testis

RGD

PMID:15269155 PMID:11872041

RGD:2298869, RGD:2298875

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

Rho-associated coiled-coil containing protein kinase 1

disease_progression

mRNA:increased expression:testis

RGD

NCBI chr18:1,114,532...1,236,345
Ensembl chr18:1,115,905...1,235,571

G

RT1 class II, locus Db1

susceptibility

RGD

PMID:8712095 PMID:9374382

RGD:2314706, RGD:2314705

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

sodium channel epithelial 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

G

solute carrier family 2 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472

G

thyroid hormone receptor interactor 13

CTD Direct Evidence: marker/mechanism

NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074

acoustic neuroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

artemin

mRNA:increased expression:peripheral nerve:

RGD

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

G

brain-derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

RGD

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

G

caveolin 1

RGD

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

G

cyclin-dependent kinase inhibitor 1A

mRNA,protein:decreased expression:myelinated nerve:

RGD

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

G

cytochrome P450, family 2, subfamily e, polypeptide 1

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

RGD

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

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

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

RGD

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

G

Fibroblast growth factor receptor 1

disease_progression

RGD

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

G

glial cell derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

RGD

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

G

insulin-like growth factor 1

susceptibility

protein:increased expression:serum:

RGD

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

G

insulin-like growth factor binding protein 3

susceptibility

protein:increased expression:serum:

RGD

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

G

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

protein:decreased expression:myelinated nerve:

RGD

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

G

vascular endothelial growth factor A

RGD

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

astroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microRNA 542

disease_progression

RGD

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

G

phosphoinositide-3-kinase regulatory subunit 1

severity

RGD

PMID:26956052 PMID:26286747

RGD:11343921, RGD:13782052

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

astroblastoma, MN1-altered

term browser

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

G

similar to human chromosome 11 open reading frame 65

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

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

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

G

TSC complex subunit 2

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

PMID:25741868 PMID:28492532

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

atypical teratoid rhabdoid tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

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

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

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

G

derlin 3

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

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

G

glypican 3

protein:increased expression:brain (human)

RGD

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

G

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

susceptibility

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

CTD
OMIM
ClinVar
MouseDO

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

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

G

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

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

PMID:25741868 PMID:28492532

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

G

tumor protein p53

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

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

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

Carcinoid Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

protein:decreased expression:serum:

RGD

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

G

enolase 2

RGD

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

G

menin 1

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

RGD

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

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

RGD

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

G

microRNA 10a

CTD Direct Evidence: marker/mechanism

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

G

microRNA 127

CTD Direct Evidence: marker/mechanism

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

G

microRNA 136

CTD Direct Evidence: marker/mechanism

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

G

microRNA 146a

CTD Direct Evidence: marker/mechanism

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

G

microRNA 154

CTD Direct Evidence: marker/mechanism

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

G

microRNA 155

CTD Direct Evidence: marker/mechanism

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

G

microRNA 193a

CTD Direct Evidence: marker/mechanism

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

G

microRNA 222

CTD Direct Evidence: marker/mechanism

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

G

microRNA 224

CTD Direct Evidence: marker/mechanism

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

G

microRNA 30a

CTD Direct Evidence: marker/mechanism

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

G

microRNA 34b

CTD Direct Evidence: marker/mechanism

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

G

microRNA 34c

CTD Direct Evidence: marker/mechanism

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

G

microRNA 370

CTD Direct Evidence: marker/mechanism

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

G

microRNA 409

CTD Direct Evidence: marker/mechanism

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

G

microRNA 410

CTD Direct Evidence: marker/mechanism

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

G

microRNA 487b

CTD Direct Evidence: marker/mechanism

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

G

microRNA 494

CTD Direct Evidence: marker/mechanism

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

G

regenerating family member 1 alpha

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

RGD

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

cerebellar medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

ClinVar Annotator: match by term: Cerebellar medulloblastoma

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

chordoma

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: Chordoma

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

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

G

MN1 proto-oncogene, transcriptional regulator

ClinVar Annotator: match by term: Chordoma

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

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Chordoma

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

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

G

T-box transcription factor T

CTD Direct Evidence: marker/mechanism

PMID:19801981 PMID:23064415

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

choriocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

testicular germ cell neoplasms

RGD

NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359

G

insulin-like growth factor 2

disease_progression

RGD

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

G

insulin receptor

disease_progression

RGD

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

RGD

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

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

RGD

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

G

TIMP metallopeptidase inhibitor 3

DNA, protein:hypermethylation, decreased expression:promoter, placenta

RGD

NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839

chromosome 13q14 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitate decarboxylase 1

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

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

G

ALG11, alpha-1,2-mannosyltransferase

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

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

G

ADP-ribosylation factor like GTPase 11

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

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

G

ATPase copper transporting beta

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

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

G

bora, aurora kinase A activator

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

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

G

similar to human chromosome 13 open reading frame 42

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

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

G

calcium binding protein 39-like

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

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

G

coiled-coil domain containing 70

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

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

G

cytidine and dCMP deaminase domain containing 1

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

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

G

cytoskeleton associated protein 2

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

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

G

CLN5, intracellular trafficking protein

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

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

G

chondromodulin

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

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

G

COMM domain containing 6

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

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

G

cysteinyl leukotriene receptor 2

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

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

G

dachshund family transcription factor 1

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

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

G

diaphanous-related formin 3

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

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

G

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

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

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

G

deleted in lymphocytic leukemia, 7

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

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

G

EBP like

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

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

G

endothelin receptor type B

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

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

G

family with sequence similarity 124 member A

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

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

G

F-box and leucine-rich repeat protein 3

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

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

G

fibronectin type III domain containing 3a

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

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

G

integrator complex subunit 6

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

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

G

integral membrane protein 2B

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

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

G

potassium channel regulator

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

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

G

potassium channel tetramerization domain containing 12

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

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

G

KLF transcription factor 12

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

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

G

KLF transcription factor 5

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

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

G

kelch-like family member 1

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

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

G

karyopherin subunit alpha 3

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

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

G

LIM domain 7

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

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

G

lysophosphatidic acid receptor 6

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

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

G

mediator complex subunit 4

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

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

G

MYC binding protein 2

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

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

G

mitotic spindle organizing protein 1

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

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

G

Nedd4 family interacting protein 2

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

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

G

NIMA-related kinase 3

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

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

G

NIMA-related kinase 5

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

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

G

nudix hydrolase 15

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

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

G

ORC ubiquitin ligase 1

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

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

G

olfactomedin 4

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

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

G

protocadherin 17

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

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

G

protocadherin 20

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

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

G

protocadherin 8

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

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

G

protocadherin 9

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

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

G

PHD finger protein 11

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

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

G

progesterone immunomodulatory binding factor 1

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

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

G

POU class 4 homeobox 1

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

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

G

proline rich 20E

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

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

G

RB transcriptional corepressor 1

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

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

G

RNA binding motif protein 26

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

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

G

RCC1 and BTB domain containing protein 1

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

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

G

RCC1 and BTB domain containing protein 2

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

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

G

ribonuclease H2, subunit B

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

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

G

sciellin

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

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

G

serpin family E member 3

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

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

G

SET domain bifurcated histone lysine methyltransferase 2

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

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

G

SLAIN motif family, member 1

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

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

G

SLIT and NTRK-like family, member 1

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

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

G

SLIT and NTRK-like family, member 6

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

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

G

sprouty RTK signaling antagonist 2

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

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

G

SPRY domain containing 7

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

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

G

succinate-CoA ligase ADP-forming subunit beta

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

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

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

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

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

G

TBC1 domain family, member 4

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

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

G

tudor domain containing 3

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

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

G

thrombospondin type 1 domain containing 1

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

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

G

tripartite motif-containing 13

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

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

G

ubiquitin C-terminal hydrolase L3

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

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

G

vacuolar protein sorting 36 homolog

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

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

G

WD repeat and FYVE domain containing 2

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

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

clear cell adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

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

G

chromobox 7

disease_progression

RGD

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

G

death-domain associated protein

protein:increased expression:ovary:

RGD

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

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

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

craniopharyngioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Craniopharyngioma

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

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

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

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

G

catenin beta 1

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

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

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

G

neurofibromin 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:25741868 PMID:28492532

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

G

platelet derived growth factor receptor alpha

disease_progression

RGD

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

G

patched 1

ClinVar Annotator: match by term: Craniopharyngioma

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

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

G

SUFU negative regulator of hedgehog signaling

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

PMID:25741868 PMID:28492532 PMID:29641532

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

G

TSC complex subunit 1

ClinVar Annotator: match by term: Craniopharyngioma

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

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

dermoid cyst of ovary

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O3

OMIM:166950

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

desmoplastic/nodular medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 1A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

ADP ribosylation factor like GTPase 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

arsenite methyltransferase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

ATP synthase membrane subunit K

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

BLOC-1 related complex subunit 7

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

similar to human chromosome 10 open reading frame 95

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

calcium homeostasis modulator 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

calcium homeostasis modulator family member 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

calcium homeostasis modulator 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

cilia and flagella associated protein 43

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

cilia and flagella associated protein 58

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

cyclin and CBS domain divalent metal cation transport mediator 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

CCCTC-binding factor

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

cytochrome P450, family 17, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

glutathione S-transferase omega 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

glutathione S-transferase omega 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

internexin neuronal intermediate filament protein, alpha

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

inositol 1,4,5-trisphosphate receptor interacting protein

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

major facilitator superfamily domain containing 13A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

neuralized E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

5'-nucleotidase, cytosolic II

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

polycomb group ring finger 6

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

programmed cell death 11

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

SWI5-dependent homologous recombination repair protein 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

sideroflexin 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

SH3 and PX domains 2A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

STE20-like kinase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

sortilin-related VPS10 domain containing receptor 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

STN1 subunit of CST complex

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

TATA-box binding protein associated factor 5

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

tripartite motif-containing 8

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

G

WW domain binding protein 1-like

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

duodenal gastrinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

menin 1

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

RGD

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

endodermal sinus tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-fetoprotein

protein:increased expression:serum

RGD

NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480

G

catenin beta 1

RGD

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

G

fibroblast growth factor 8

testicular germ cell neoplasms

RGD

NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359

G

spalt-like transcription factor 4

protein:increased expression:testis, nucleus (human)

RGD

NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

Wnt family member 2B

RGD

NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308

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

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

G

neurotrophic receptor tyrosine kinase 1

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

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

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

G

prolactin receptor

OMIM:155240

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

G

ret proto-oncogene

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

CTD
OMIM
ClinVar

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

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

familial retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

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

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

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

gastrinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin-like growth factor 1 receptor

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

RGD

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

G

menin 1

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

CTD
RGD

PMID:17961653 PMID:15944766

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

G

MET proto-oncogene, receptor tyrosine kinase

severity

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

RGD

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

G

O-6-methylguanine-DNA methyltransferase

DNA:hypomethylation:promoter (human)

RGD

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

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet

RGD

PMID:12114701 PMID:8421107

RGD:2324976, RGD:2324977

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

Gastro-Enteropancreatic Neuroendocrine Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

disease_progression

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

RGD

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

G

ATRX, chromatin remodeler

severity

RGD

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

G

Cd53 molecule

CTD Direct Evidence: marker/mechanism

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

G

CD86 molecule

CTD Direct Evidence: marker/mechanism

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

G

class II, major histocompatibility complex, transactivator

CTD Direct Evidence: marker/mechanism

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

G

C-X-C motif chemokine receptor 4

severity

protein:increased expression:colon (human)

RGD

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

G

death-domain associated protein

severity

RGD

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

G

eomesodermin

CTD Direct Evidence: marker/mechanism

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

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

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

G

growth factor independent 1 transcriptional repressor

CTD Direct Evidence: marker/mechanism

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

G

IKAROS family zinc finger 1

CTD Direct Evidence: marker/mechanism

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

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

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

G

interleukin 10

CTD Direct Evidence: marker/mechanism

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

G

interleukin 2 receptor subunit beta

CTD Direct Evidence: marker/mechanism

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

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

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

G

POU class 2 homeobox 2

CTD Direct Evidence: marker/mechanism

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

G

protein tyrosine phosphatase, receptor type, C

CTD Direct Evidence: marker/mechanism

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

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

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

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

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

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

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

Glucagonoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

betacellulin

protein:increased expression:pancreas

RGD

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

G

menin 1

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

CTD
RGD

PMID:17961653 PMID:20138042

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

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet

RGD

PMID:12114701 PMID:8421107

RGD:2324976, RGD:2324977

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

G

somatostatin receptor 4

RGD

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

Hirschsprung Disease Ganglioneuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeobox 2b

ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma

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

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

Hydatidiform Mole

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein hormones, alpha polypeptide

protein:increased expression:serum

RGD

NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

RGD

NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079

G

KH domain containing 3, subcortical maternal complex member

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

NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248

G

mutL homolog 1

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

RGD

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

RGD

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

G

mutS homolog 2

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

RGD

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

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

RGD

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

Hydatidiform Mole, Invasive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 2

protein:decreased expression:mononuclear cytotrophoblast cell

RGD

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

Hydatidiform Mole, Recurrent, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1

PMID:19066229 PMID:21507883 PMID:24105752

NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1

PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More...

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

Hydatidiform Mole, Recurrent, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KH domain containing 3, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2

PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More...

NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248

Hydatidiform Mole, Recurrent, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

meiotic double-stranded break formation protein 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3

PMID:25741868 PMID:30388401

NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511

Hydatidiform Mole, Recurrent, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TOP6B like initiator of meiotic double strand breaks

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4

PMID:25741868 PMID:30388401

NCBI chr 1:201,902,564...201,989,945

Intestinal Carcinoid Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleosome assembly protein 1-like 1

mRNA:increased expression:intestinal mucosa (human)

RGD

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

G

succinate dehydrogenase complex subunit D

ClinVar Annotator: match by term: Carcinoid tumors, intestinal

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

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

islet cell tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

disease_progression

protein:decreased expression:pancreas:

RGD

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

G

cyclin-dependent kinase 4

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

RGD

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

G

death-domain associated protein

disease_progression

RGD

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

G

proprotein convertase subtilisin/kexin type 1

protein:increased expression:insulinoma (rat)

RGD

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

Islet Cell Tumor Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

farnesyltransferase, CAAX box, subunit beta

ClinVar Annotator: match by term: Chromaffinoma

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

G

MYC associated factor X

ClinVar Annotator: match by term: Chromaffinoma

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

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

G

myelin protein zero

ClinVar Annotator: match by term: Chromaffinoma

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

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

G

ret proto-oncogene

ClinVar Annotator: match by term: Chromaffinoma

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

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

G

succinate dehydrogenase complex assembly factor 2

ClinVar Annotator: match by term: Chromaffinoma

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

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Chromaffinoma

PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More...

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

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Chromaffinoma

PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 More...

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

G

succinate dehydrogenase complex subunit D

ClinVar Annotator: match by term: Chromaffinoma

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

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

G

transmembrane protein 127

ClinVar Annotator: match by term: Chromaffinoma

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

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

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Chromaffinoma

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

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

Lung Carcinoid Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

disease_progression

protein:decreased expression:nucleus, lung

RGD

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

G

collagen type IV alpha 3 chain

severity

mRNA:decreased expression:lung (human)

RGD

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

G

cAMP responsive element binding protein 5

severity

mRNA:decreased expression:lung (human)

RGD

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

G

menin 1

ClinVar Annotator: match by term: Lung carcinoid tumor

PMID:9215689 PMID:9361035 PMID:9463336 PMID:9709921 PMID:11303512 More...

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

G

protein tyrosine phosphatase, receptor type, B

severity

mRNA:decreased expression:lung (human)

RGD

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

lung oat cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Lung oat cell carcinoma

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

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

G

beta-2 microglobulin

ClinVar Annotator: match by term: Lung oat cell carcinoma

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

G

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

ClinVar Annotator: match by term: Lung oat cell carcinoma

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

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

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Lung oat cell carcinoma

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

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

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Lung oat cell carcinoma

PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 More...

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

G

tumor protein p53

ClinVar Annotator: match by term: Lung oat cell carcinoma

PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 More...

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

lung small cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1B

RGD

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

G

adenylate cyclase 1

CTD Direct Evidence: marker/mechanism

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

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Small cell lung cancer

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

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

G

apolipoprotein A1

treatment

RGD

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

G

apolipoprotein C3

treatment

RGD

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

G

achaete-scute family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

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

G

ATM serine/threonine kinase

susceptibility

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

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

G

ATRX, chromatin remodeler

disease_progression

RGD

PMID:31374064 PMID:29748005

RGD:127285382, RGD:127285383

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

G

arginine vasopressin

CTD Direct Evidence: marker/mechanism

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

G

axin 2

disease_progression

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

RGD

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

G

beta-2 microglobulin

ClinVar Annotator: match by term: Small cell lung carcinoma

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

G

BCL2, apoptosis regulator

susceptibility

DNA:SNP: :rs2279115(human)

RGD

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

G

BCL2-associated transcription factor 1

CTD Direct Evidence: marker/mechanism

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

G

cyclin D1

disease_progression

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

RGD

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

G

cyclin-dependent kinase inhibitor 1B

protein:increased expression:lung

RGD

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

G

chromodomain Y-like

CTD Direct Evidence: marker/mechanism

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

G

cholinergic receptor nicotinic alpha 3 subunit

susceptibility

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

RGD

PMID:20124469 PMID:22280835

RGD:150527851, RGD:151347453

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

G

cholinergic receptor nicotinic alpha 5 subunit

mRNA:increased expression:lung

RGD

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

G

cholinergic receptor nicotinic alpha 9 subunit

susceptibility

DNA:SNPs:multiples:

RGD

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

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:lung

RGD

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

G

creatine kinase B

CTD Direct Evidence: marker/mechanism

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

G

contactin associated protein 2

CTD Direct Evidence: marker/mechanism

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

G

collagen type XXII alpha 1 chain

CTD Direct Evidence: marker/mechanism

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

G

collagen type IV alpha 2 chain

CTD Direct Evidence: marker/mechanism

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

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

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

G

colony stimulating factor 1 receptor

exacerbates

protein:increased expression:lung (human)

RGD

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

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

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

G

cytochrome P450, family 24, subfamily a, polypeptide 1

susceptibility

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

RGD

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

G

disco-interacting protein 2 homolog C

CTD Direct Evidence: marker/mechanism

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

G

delta like canonical Notch ligand 4

treatment

RGD

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

G

DNA methyltransferase 3 beta

susceptibility

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

RGD

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

G

E2F transcription factor 1

disease_progression
treatment

mRNA, protein:increased expression:lung

RGD

PMID:24755270 PMID:11313916 PMID:23792570

RGD:13464335, RGD:13464344, RGD:13464337

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

G

eukaryotic translation elongation factor 2

protein:increased expression:lung (human)

RGD

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

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

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

G

ELAV like RNA binding protein 2

CTD Direct Evidence: marker/mechanism

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

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

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

G

Eph receptor A7

CTD Direct Evidence: marker/mechanism

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

G

FAT atypical cadherin 1

DNA:mutations:multiple (human)

RGD

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

G

Fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

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

G

forkhead box A1

disease_progression

RGD

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

G

glutamate ionotropic receptor kainate type subunit 3

CTD Direct Evidence: marker/mechanism

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

G

glutamate metabotropic receptor 8

CTD Direct Evidence: marker/mechanism

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

G

gastrin releasing peptide

disease_progression

protein:increased expression:serum (human)

RGD

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

G

inhibitor of DNA binding 2

CTD Direct Evidence: marker/mechanism

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

G

INSM transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

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

G

integrin subunit beta 1

disease_progression
treatment

RGD

PMID:21063403 PMID:12168902

RGD:13792831, RGD:13792832

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

G

lysine demethylase 6A

DNA:mutations:multiple: (human)

RGD

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

G

KH-type splicing regulatory protein

CTD Direct Evidence: marker/mechanism

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

G

kinesin family member 21A

CTD Direct Evidence: marker/mechanism

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

G

KIT proto-oncogene receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

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

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

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

G

lysine methyltransferase 2D

disease_progression

DNA:missense mutations, insertion/deletion:plasma

RGD

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

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

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

G

laminin subunit alpha 3

DNA:hyper-methylation:promoter:

RGD

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

G

laminin subunit beta 3

DNA:hyper-methylation:promoter:

RGD

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

G

laminin subunit gamma 2

DNA:hyper-methylation:promoter:

RGD

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

G

LYR motif containing 9

CTD Direct Evidence: marker/mechanism

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

G

MYC associated factor X

DNA:loss of heterozygosity:lung

RGD

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

G

methylenetetrahydrofolate reductase

severity

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

RGD

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

G

mechanistic target of rapamycin kinase

disease_progression

DNA:SNP: :rs2536(human)

RGD

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

G

MYC proto-oncogene, bHLH transcription factor

disease_progression

RGD

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

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: therapeutic

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

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

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

G

notch receptor 1

treatment

RGD

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

G

polybromo 1

disease_progression

RGD

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

G

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

ClinVar Annotator: match by term: Small cell lung carcinoma

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

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

G

phosphoinositide-3-kinase regulatory subunit 1

disease_progression

DNA:SNPs: :rs3756668,rs12755(human)

RGD

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

G

phospholipid scramblase 4

CTD Direct Evidence: marker/mechanism

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

G

phosphatase and tensin homolog

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

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

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

G

protein tyrosine kinase 2

disease_progression

DNA:CNV::

RGD

PMID:21800286 PMID:20802517

RGD:13825133, RGD:13825141

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

G

RAD52 homolog, DNA repair protein

susceptibility
treatment

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

RGD

PMID:26629180 PMID:27531263

RGD:151660337, RGD:151660339

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

G

retinoic acid receptor, beta

DNA:methylation: :

RGD

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

G

Ras association domain family member 8

CTD Direct Evidence: marker/mechanism

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

G

RB transcriptional corepressor 1

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

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

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

G

RPTOR independent companion of MTOR, complex 2

severity

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

RGD

PMID:31454632 PMID:27863413

RGD:152995447, RGD:152995517

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

G

regulating synaptic membrane exocytosis 2

CTD Direct Evidence: marker/mechanism

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

G

RUNX1 partner transcriptional co-repressor 1

CTD Direct Evidence: marker/mechanism

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

G

SATB homeobox 2

CTD Direct Evidence: marker/mechanism

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

G

S-phase kinase associated protein 2

mRNA:increased expression:lung:

RGD

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

G

slit guidance ligand 2

CTD Direct Evidence: marker/mechanism

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

G

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

CTD Direct Evidence: marker/mechanism

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

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

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

G

transmembrane protein 132D

CTD Direct Evidence: marker/mechanism

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

G

tumor protein p53

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

PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 More...

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

G

tumor protein p73

DNA:mutations:multiple: (human)

RGD

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

G

transthyretin

protein:increased expression:lung (human)

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

G

UBX domain protein 11

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

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

G

exportin 5

severity

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

RGD

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

G

zinc finger, DBF-type containing 2

CTD Direct Evidence: marker/mechanism

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

malignant peripheral nerve sheath tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine demethylase 4B

DNA:amplification:cds (human)

RGD

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

Medullary Carcinomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

15-hydroxyprostaglandin dehydrogenase

CTD Direct Evidence: therapeutic

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

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

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

medullary thyroid carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Medullary thyroid gland carcinoma

PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17062680 More...

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

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma

PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More...

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

medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 3

ClinVar Annotator: match by term: Classic medulloblastoma

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

G

APC regulator of WNT signaling pathway

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

CTD
RGD

PMID:7661930 PMID:17238184

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

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Medulloblastoma

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

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

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

G

atonal bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

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

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Medulloblastoma

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

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

G

BRCA2, DNA repair associated

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

OMIM
ClinVar
CTD
RGD

PMID:251866 PMID:278235 PMID:8589730 PMID:8673090 PMID:8988179 More...

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

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

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

G

bromodomain containing 3

CTD Direct Evidence: marker/mechanism

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

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:24231268 PMID:31594641

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

G

cyclin D1

RGD

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

G

cyclin E1

CTD Direct Evidence: marker/mechanism

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

G

cyclin-dependent kinase 6

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19270706 PMID:23138228 PMID:16314645

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

G

cyclin-dependent kinase 9

CTD Direct Evidence: marker/mechanism

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

G

CREB binding protein

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

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

G

catenin beta 1

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

OMIM
ClinVar
CTD

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

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

G

DEAD-box helicase 3, X-linked

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

PMID:26822237 PMID:27058758

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

G

dicer 1 ribonuclease III

ClinVar Annotator: match by term: Medulloblastoma

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

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

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

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

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

G

elongator acetyltransferase complex subunit 1

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

OMIM
ClinVar
CTD

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

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

G

E1A binding protein p300

ClinVar Annotator: match by term: Medulloblastoma

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

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

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

G

estrogen receptor 2

CTD Direct Evidence: therapeutic

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

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

G

Fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Medulloblastoma

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

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

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

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

G

forkhead box O3

ClinVar Annotator: match by term: Medulloblastoma

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

G

G protein-coupled receptor 161

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

OMIM
ClinVar
CTD

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

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

G

glutathione S-transferase mu 1

DNA:deletion: :

RGD

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

G

glutathione S-transferase theta 1

DNA:deletion: :

RGD

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

G

HIC ZBTB transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

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

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

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

G

interferon gamma

OMIM:155255

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

G

insulin receptor substrate 2

CTD Direct Evidence: marker/mechanism

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

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

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

G

lysine demethylase 4B

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

CTD
RGD

PMID:19270706 PMID:19270706

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

G

lysine demethylase 4C

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

CTD
RGD

PMID:19270706 PMID:19270706

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

G

L3MBTL histone methyl-lysine binding protein 2

CTD Direct Evidence: marker/mechanism

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

G

L3MBTL histone methyl-lysine binding protein 3

CTD Direct Evidence: marker/mechanism

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

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

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

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:31694585

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

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

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

G

MYCN proto-oncogene, bHLH transcription factor

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

PMID:19270706 PMID:26619011

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

G

non-POU domain containing, octamer-binding

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

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

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

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

G

orthodenticle homeobox 2

CTD Direct Evidence: marker/mechanism

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

G

platelet derived growth factor receptor alpha

severity

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19270706 PMID:25576913

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

G

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

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

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

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

G

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

CTD Direct Evidence: marker/mechanism

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

G

PRAME like, X-linked 1

CTD Direct Evidence: marker/mechanism

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

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Medulloblastoma

PMID:26822237 PMID:28492532

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

G

protein arginine methyltransferase 5

CTD Direct Evidence: therapeutic

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

G

patched 1

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

CTD
ClinVar
MouseDO
RGD

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

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

G

patched 2

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

OMIM
ClinVar
CTD

PMID:25741868 PMID:28492532

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

G

Ras association domain family member 1

CTD Direct Evidence: marker/mechanism

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

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:28492532 PMID:10783170

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

G

ret proto-oncogene

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197

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

G

S100 calcium binding protein A10

CTD Direct Evidence: marker/mechanism

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

G

S100 calcium-binding protein A4

CTD Direct Evidence: marker/mechanism

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

G

S100 calcium binding protein A6

CTD Direct Evidence: marker/mechanism

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

G

secretogranin V

CTD Direct Evidence: marker/mechanism

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

G

Scm polycomb group protein like 2

CTD Direct Evidence: marker/mechanism

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

G

splicing factor 3b, subunit 2

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

G

S-phase kinase associated protein 2

CTD Direct Evidence: marker/mechanism

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

G

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

ClinVar Annotator: match by term: Medulloblastoma

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

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

G

smoothened, frizzled class receptor

treatment

ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255

ClinVar
MouseDO
RGD

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

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

G

SET and MYND domain containing 4

CTD Direct Evidence: marker/mechanism

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

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

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

G

STE20 related adaptor alpha

CTD Direct Evidence: marker/mechanism

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

G

SUFU negative regulator of hedgehog signaling

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

OMIM
ClinVar
CTD
RGD

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

RGD:1599191, RGD:150573693

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

G

tumor protein p53

disease_progression

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

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

RGD:1302544, RGD:8547823

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

G

TSC complex subunit 2

DNA:polymorphism:intron

RGD

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

G

tubulin, beta 4A class IVa

ClinVar Annotator: match by term: Classic medulloblastoma

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

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

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

G

WRN RecQ like helicase

ClinVar Annotator: match by term: Medulloblastoma

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

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