neuroectodermal tumor - 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:	neuroectodermal tumor	go back to main search page
Accession:	DOID:171	browse the term
Definition:	Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.
Synonyms:	exact_synonym:	neuroectodermal tumors; primitive neuroectodermal neoplasm
	primary_id:	MESH:D017599
	xref:	EFO:0005235
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (507) Mouse (556) Human (12672) Chinchilla (429) Bonobo (453) Dog (466) Squirrel (437) Pig (454) Green Monkey (444) Naked Mole-rat (426) All
Genes (468) QTL (7) Strains (6) Cell Lines (26)

neuroectodermal tumor

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

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

acoustic neuroma

term browser

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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

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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

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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

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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

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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

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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

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microRNA 542

disease_progression

RGD

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

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phosphoinositide-3-kinase regulatory subunit 1

severity

RGD

PMID:26956052 PMID:26286747

RGD:11343921, RGD:13782052

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

astroblastoma, MN1-altered

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

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

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

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

G

similar to human chromosome 11 open reading frame 65

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

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

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

G

TSC complex subunit 2

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

PMID:25741868 PMID:28492532

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

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

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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

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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

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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

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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

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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

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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

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

ClinVar Annotator: match by term: Cerebellar medulloblastoma

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

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

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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

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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

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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

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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

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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

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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

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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

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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

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

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

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

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

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

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

lung small cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1B

RGD

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

G

adenylate cyclase 1

CTD Direct Evidence: marker/mechanism

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

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Small cell lung cancer

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

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

G

apolipoprotein A1

treatment

RGD

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

G

apolipoprotein C3

treatment

RGD

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

G

achaete-scute family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

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

G

ATM serine/threonine kinase

susceptibility

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

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

G

ATRX, chromatin remodeler

disease_progression

RGD

PMID:31374064 PMID:29748005

RGD:127285382, RGD:127285383

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

G

arginine vasopressin

CTD Direct Evidence: marker/mechanism

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

G

axin 2

disease_progression

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

RGD

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

G

beta-2 microglobulin

ClinVar Annotator: match by term: Small cell lung carcinoma

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

G

BCL2, apoptosis regulator

susceptibility

DNA:SNP: :rs2279115(human)

RGD

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

G

BCL2-associated transcription factor 1

CTD Direct Evidence: marker/mechanism

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

G

cyclin D1

disease_progression

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

RGD

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

G

cyclin-dependent kinase inhibitor 1B

protein:increased expression:lung

RGD

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

G

chromodomain Y-like

CTD Direct Evidence: marker/mechanism

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

G

cholinergic receptor nicotinic alpha 3 subunit

susceptibility

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

RGD

PMID:20124469 PMID:22280835

RGD:150527851, RGD:151347453

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

G

cholinergic receptor nicotinic alpha 5 subunit

mRNA:increased expression:lung

RGD

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

G

cholinergic receptor nicotinic alpha 9 subunit

susceptibility

DNA:SNPs:multiples:

RGD

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

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:lung

RGD

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

G

creatine kinase B

CTD Direct Evidence: marker/mechanism

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

G

contactin associated protein 2

CTD Direct Evidence: marker/mechanism

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

G

collagen type XXII alpha 1 chain

CTD Direct Evidence: marker/mechanism

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

G

collagen type IV alpha 2 chain

CTD Direct Evidence: marker/mechanism

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

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

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

G

colony stimulating factor 1 receptor

exacerbates

protein:increased expression:lung (human)

RGD

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

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

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

G

cytochrome P450, family 24, subfamily a, polypeptide 1

susceptibility

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

RGD

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

G

disco-interacting protein 2 homolog C

CTD Direct Evidence: marker/mechanism

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

G

delta like canonical Notch ligand 4

treatment

RGD

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

G

DNA methyltransferase 3 beta

susceptibility

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

RGD

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

G

E2F transcription factor 1

disease_progression
treatment

mRNA, protein:increased expression:lung

RGD

PMID:24755270 PMID:11313916 PMID:23792570

RGD:13464335, RGD:13464344, RGD:13464337

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

G

eukaryotic translation elongation factor 2

protein:increased expression:lung (human)

RGD

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

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

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

G

ELAV like RNA binding protein 2

CTD Direct Evidence: marker/mechanism

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

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

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

G

Eph receptor A7

CTD Direct Evidence: marker/mechanism

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

G

FAT atypical cadherin 1

DNA:mutations:multiple (human)

RGD

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

G

Fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

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

G

forkhead box A1

disease_progression

RGD

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

G

glutamate ionotropic receptor kainate type subunit 3

CTD Direct Evidence: marker/mechanism

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

G

glutamate metabotropic receptor 8

CTD Direct Evidence: marker/mechanism

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

G

gastrin releasing peptide

disease_progression

protein:increased expression:serum (human)

RGD

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

G

inhibitor of DNA binding 2

CTD Direct Evidence: marker/mechanism

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

G

INSM transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

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

G

integrin subunit beta 1

disease_progression
treatment

RGD

PMID:21063403 PMID:12168902

RGD:13792831, RGD:13792832

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

G

lysine demethylase 6A

DNA:mutations:multiple: (human)

RGD

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

G

KH-type splicing regulatory protein

CTD Direct Evidence: marker/mechanism

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

G

kinesin family member 21A

CTD Direct Evidence: marker/mechanism

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

G

KIT proto-oncogene receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

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

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

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

G

lysine methyltransferase 2D

disease_progression

DNA:missense mutations, insertion/deletion:plasma

RGD

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

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

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

G

laminin subunit alpha 3

DNA:hyper-methylation:promoter:

RGD

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

G

laminin subunit beta 3

DNA:hyper-methylation:promoter:

RGD

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

G

laminin subunit gamma 2

DNA:hyper-methylation:promoter:

RGD

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

G

LYR motif containing 9

CTD Direct Evidence: marker/mechanism

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

G

MYC associated factor X

DNA:loss of heterozygosity:lung

RGD

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

G

methylenetetrahydrofolate reductase

severity

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

RGD

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

G

mechanistic target of rapamycin kinase

disease_progression

DNA:SNP: :rs2536(human)

RGD

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

G

MYC proto-oncogene, bHLH transcription factor

disease_progression

RGD

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

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: therapeutic

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

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

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

G

notch receptor 1

treatment

RGD

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

G

polybromo 1

disease_progression

RGD

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

G

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

ClinVar Annotator: match by term: Small cell lung carcinoma

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

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

G

phosphoinositide-3-kinase regulatory subunit 1

disease_progression

DNA:SNPs: :rs3756668,rs12755(human)

RGD

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

G

phospholipid scramblase 4

CTD Direct Evidence: marker/mechanism

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

G

phosphatase and tensin homolog

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

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

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

G

protein tyrosine kinase 2

disease_progression

DNA:CNV::

RGD

PMID:21800286 PMID:20802517

RGD:13825133, RGD:13825141

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

G

RAD52 homolog, DNA repair protein

susceptibility
treatment

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

RGD

PMID:26629180 PMID:27531263

RGD:151660337, RGD:151660339

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

G

retinoic acid receptor, beta

DNA:methylation: :

RGD

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

G

Ras association domain family member 8

CTD Direct Evidence: marker/mechanism

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

G

RB transcriptional corepressor 1

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

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

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

G

RPTOR independent companion of MTOR, complex 2

severity

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

RGD

PMID:31454632 PMID:27863413

RGD:152995447, RGD:152995517

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

G

regulating synaptic membrane exocytosis 2

CTD Direct Evidence: marker/mechanism

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

G

RUNX1 partner transcriptional co-repressor 1

CTD Direct Evidence: marker/mechanism

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

G

SATB homeobox 2

CTD Direct Evidence: marker/mechanism

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

G

S-phase kinase associated protein 2

mRNA:increased expression:lung:

RGD

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

G

slit guidance ligand 2

CTD Direct Evidence: marker/mechanism

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

G

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

CTD Direct Evidence: marker/mechanism

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

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

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

G

transmembrane protein 132D

CTD Direct Evidence: marker/mechanism

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

G

tumor protein p53

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

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

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

G

tumor protein p73

DNA:mutations:multiple: (human)

RGD

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

G

transthyretin

protein:increased expression:lung (human)

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

G

UBX domain protein 11

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

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

G

exportin 5

severity

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

RGD

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

G

zinc finger, DBF-type containing 2

CTD Direct Evidence: marker/mechanism

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

malignant peripheral nerve sheath tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine demethylase 4B

DNA:amplification:cds (human)

RGD

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

Medullary Carcinomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

15-hydroxyprostaglandin dehydrogenase

CTD Direct Evidence: therapeutic

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

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

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

medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 3

ClinVar Annotator: match by term: Classic medulloblastoma

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

G

APC regulator of WNT signaling pathway

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

CTD
RGD

PMID:7661930 PMID:17238184

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

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Medulloblastoma

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

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

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

G

atonal bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

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

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Medulloblastoma

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

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

G

BRCA2, DNA repair associated

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

OMIM
ClinVar
CTD
RGD

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

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

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

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

G

bromodomain containing 3

CTD Direct Evidence: marker/mechanism

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

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:24231268 PMID:31594641

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

G

cyclin D1

RGD

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

G

cyclin E1

CTD Direct Evidence: marker/mechanism

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

G

cyclin-dependent kinase 6

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19270706 PMID:23138228 PMID:16314645

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

G

cyclin-dependent kinase 9

CTD Direct Evidence: marker/mechanism

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

G

CREB binding protein

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

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

G

catenin beta 1

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

OMIM
ClinVar
CTD

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

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

G

DEAD-box helicase 3, X-linked

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

PMID:26822237 PMID:27058758

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

G

dicer 1 ribonuclease III

ClinVar Annotator: match by term: Medulloblastoma

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

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

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

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

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

G

elongator acetyltransferase complex subunit 1

ClinVar Annotator: match by term: MEDULLOBLASTOMA 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 | ClinVar Annotator: match by term: Medulloblastoma

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
OMIM:155255
ClinVar Annotator: match by term: Medulloblastoma

CTD
MouseDO
ClinVar
RGD

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

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

G

patched 2

CTD Direct Evidence: marker/mechanism

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

G

Ras association domain family member 1

CTD Direct Evidence: marker/mechanism

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

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:28492532 PMID:10783170

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

G

ret proto-oncogene

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

PMID:11436122 PMID:24033266 PMID:25741868 PMID: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

ClinVar
OMIM
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
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
protein:increased expression:nucleus:

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

RGD:1302544, RGD:8547823

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

G

TSC complex subunit 2

DNA:polymorphism:intron

RGD

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

G

tubulin, beta 4A class IVa

ClinVar Annotator: match by term: Classic medulloblastoma

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

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

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

G

WRN RecQ like helicase

ClinVar Annotator: match by term: Medulloblastoma

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

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

Megalencephaly-Polydactyly Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome

PMID:25741868 PMID:30573562 PMID:37710961

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

Merkel cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cd68 molecule

protein:increased expression:tumor (human)

RGD

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

fibroblast growth factor receptor 3

mRNA:decreased expression:skin (human)

RGD

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

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

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

G

sperm autoantigenic protein 17

mRNA,protein:increased expression:nucleus

RGD

NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639

neurilemmoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase family, AAA domain containing 5

mRNA:increased expression:neural tissue (human)

RGD

NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845

G

Axl receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265

G

cyclin-dependent kinase inhibitor 2A

DNA,protein:deletion,decreased expression: :

RGD

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

G

embryonic ectoderm development

CTD Direct Evidence: marker/mechanism

NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974

G

kinase insert domain receptor

mRNA:decreased expression:brain:

RGD

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

G

leucine zipper like post translational regulator 1

DNA:missense mutation:cds,multiple (human)

RGD

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

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

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

G

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

DNA:loss of heterozygosity

RGD

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

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:tumor (human)

RGD

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

G

serpin family E member 1

mRNA,protein:increased expression:schwann cell

RGD

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

G

SIX homeobox 1

mRNA:increased expression:Schwann cell (human)

RGD

NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975

G

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

ClinVar Annotator: match by term: Schwannoma

PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25631985 More...

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

G

synuclein alpha

protein:increased expression:cytoplasm

RGD

NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

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

G

WT1 transcription factor

CTD Direct Evidence: therapeutic

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

neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

CTD Direct Evidence: marker/mechanism

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

G

ALK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility

PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More...

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

G

arachidonate 5-lipoxygenase activating protein

mRNA, protein:increased expression:neuroblastoma (human)

RGD

NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism
DNA:mutations,loss of heterozygosity: :

CTD
RGD

PMID:23202128 PMID:23202128

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

G

AT-rich interaction domain 1B

CTD Direct Evidence: marker/mechanism
DNA:deletion,haploinsufficiency: :

CTD
RGD

PMID:23202128 PMID:23202128

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

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

PMID:23334666 PMID:26523776

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

G

aurora kinase A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

BRCA1 associated RING domain 1

CTD Direct Evidence: marker/mechanism

PMID:19412175 PMID:23334666

NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

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

G

baculoviral IAP repeat-containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

baculoviral IAP repeat-containing 3

CTD Direct Evidence: marker/mechanism

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

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Neuroblastoma

PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More...

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

G

CD44 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620

G

CD55 molecule (Cromer blood group)

RGD

NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831

G

cyclin-dependent kinase inhibitor 2A

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15814359 PMID:24714808

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

G

chromatin assembly factor 1 subunit A

disease_progression

mRNA:increased expression: :

RGD

PMID:24335960 PMID:24335960

RGD:9587458, RGD:9587458

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

G

chromodomain helicase DNA binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291

G

chromodomain helicase DNA binding protein 6

CTD Direct Evidence: marker/mechanism

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

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

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

G

dopamine beta-hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248

G

dedicator of cytokinesis 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

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

G

FA complementation group A

ClinVar Annotator: match by term: Neuroblastoma

PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More...

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

G

Fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More...

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

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Neuroblastoma

PMID:26822237 PMID:28492532

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

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

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

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

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

G

HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

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

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:26121086

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

G

interferon beta 1

CTD Direct Evidence: therapeutic

NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523

G

insulin-like growth factor 1 receptor

protein: decreased tyrosine phosphorylation: : Y1131

RGD

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

G

insulin-like growth factor 2 mRNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129

G

interleukin 18

susceptibility

RGD

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

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

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

G

ISL LIM homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584

G

kinesin family member 1B

ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 More...

NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

lin-28 homolog B

CTD Direct Evidence: marker/mechanism

PMID:22941191 PMID:23042116

NCBI chr20:48,865,329...48,964,769
Ensembl chr20:48,869,485...48,955,077

G

mitogen activated protein kinase kinase 4

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993

G

mitogen activated protein kinase kinase 7

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222

G

menin 1

ClinVar Annotator: match by term: Neuroblastoma

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

G

MET proto-oncogene, receptor tyrosine kinase

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

PMID:16051641 PMID:26822237

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

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

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

G

mitochondrially encoded cytochrome c oxidase II

CTD Direct Evidence: marker/mechanism

NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689

G

mitochondrial fission process 1

severity

mRNA:increased expression:neural tissue (human)

RGD

NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

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

G

MYC proto-oncogene, bHLH transcription factor

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

PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302

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

G

MYCN proto-oncogene, bHLH transcription factor

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

PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 More...

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

G

NME/NM23 nucleoside diphosphate kinase 1

RGD

NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408

G

neuronatin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834

G

nodal growth differentiation factor

mRNA:increased expression:neural tissue (human)

RGD

NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837

G

NRAS proto-oncogene, GTPase

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

PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More...

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

G

nuclear receptor binding SET domain protein 1

severity

DNA:hypermethylation:promoter:CpG islands (human)

RGD

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

G

5' nucleotidase, ecto

CTD Direct Evidence: therapeutic

NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881

G

neurotrophic receptor tyrosine kinase 1

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16989911 PMID:8433391

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

G

neurotrophic receptor tyrosine kinase 2

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

PMID:16051641 PMID:26822237

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

G

p21 (RAC1) activated kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413

G

platelet and endothelial cell adhesion molecule 1

human tumor in mouse model

RGD

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

G

PHD finger protein 6

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127

G

paired-like homeobox 2b

exacerbates

ClinVar Annotator: match by term: Neuroblastoma
human cell line in a mouse model
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:25174395 PMID:30127528 PMID:26840262

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

G

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

ClinVar Annotator: match by term: Neuroblastoma

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

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

G

PTEN induced kinase 1

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

PMID:23334666 PMID:25741868

NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635

G

PRAME like, X-linked 1

severity

mRNA:increased expression:neural tissue (human)

RGD

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

G

proteasome 26S subunit, non-ATPase 14

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,254,338...46,347,076
Ensembl chr 3:46,254,330...46,347,076

G

patched 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:25741868 PMID:28492532

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

G

protein tyrosine phosphatase, non-receptor type 11

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

PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 More...

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

G

protein tyrosine phosphatase, non-receptor type 14

CTD Direct Evidence: marker/mechanism

NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088

G

Ras association domain family member 1

RGD

PMID:17325427 PMID:12222680

RGD:2291979, RGD:2291977

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

G

Ras association domain family member 5

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024

G

RNA binding motif protein 15

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

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

G

sodium channel epithelial 1 subunit alpha

disease_progression

Low levels of methylation correlate with improved survival

RGD

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

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Neuroblastoma

PMID:21979946 PMID:25741868 PMID:28492532

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

G

semaphorin 3B

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919

G

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

ClinVar Annotator: match by term: Neuroblastoma

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

G

small nuclear ribonucleoprotein polypeptide E

severity

mRNA:decreased expression:neuroblastoma (human)

RGD

NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310

G

T-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

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

G

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

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

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

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

G

tumor protein p53

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

PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More...

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

G

tumor protein p73

no_association

RGD

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

G

TSC complex subunit 1

ClinVar Annotator: match by term: Neuroblastoma

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

G

TSC complex subunit 2

ClinVar Annotator: match by term: Neuroblastoma

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

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

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

G

zinc finger protein (C2H2 type) 276

ClinVar Annotator: match by term: Neuroblastoma

PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More...

NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049

Neuroblastoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeobox 2b

susceptibility

ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2

PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More...

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

Neuroblastoma 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

susceptibility

ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 More...

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

G

CAP-GLY domain containing linker protein family, member 4

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 6:23,616,280...23,697,625
NCBI chr 6:23,718,580...23,729,231
NCBI chr 6:23,597,729...23,601,000
Ensembl chr 6:23,616,281...23,677,874

G

photoreceptor cilium actin regulator

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169

G

TOG array regulator of axonemal microtubules 2

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 6:23,770,979...23,828,884
Ensembl chr 6:23,771,052...23,828,499

G

WD repeat domain 43

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 6:23,845,499...23,884,846
Ensembl chr 6:23,845,499...23,884,846

neuroendocrine carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

enolase 2

RGD

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

neuroendocrine tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

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

G

Brca1 associated protein 1

CTD Direct Evidence: marker/mechanism

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

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

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

G

calreticulin

exacerbates

human cells and recombinant protein in a mouse model

RGD

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

cyclin-dependent kinase inhibitor 1B

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

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

G

death-domain associated protein

severity

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21252315 PMID:23954140

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

G

menin 1

CTD Direct Evidence: marker/mechanism

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

G

parathyroid hormone-like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847

G

somatostatin receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802

G

somatostatin receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:98,664,204...98,671,370
Ensembl chr10:98,664,216...98,674,351

G

somatostatin receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:110,092,563...110,109,043
Ensembl chr 7:110,092,575...110,099,769

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

non-functioning pancreatic endocrine tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

exacerbates

protein:decreased expression:endocrine pancreas (human)

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

G

cyclin-dependent kinase 4

associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)

RGD

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

G

cyclin-dependent kinase 6

associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)

RGD

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

olfactory neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hypoxia inducible factor 1 subunit alpha

severity

protein:increased expression:neuroblastoma (human)

RGD

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

pancreatic endocrine carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas

PMID:15145354 PMID:22762150 PMID:25741868 PMID:29446198

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

G

cut-like homeobox 1

exacerbates

protein:increased expression:pancreas (human)

NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866

G

death-domain associated protein

disease_progression

DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human)

RGD

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

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

RGD

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

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas

PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More...

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

G

placental growth factor

disease_progression
treatment

protein:increased expression:serum (human)
human cells in a mouse model

RGD

PMID:23463017 PMID:26861455

RGD:14349029, RGD:14349030

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

PERITONEAL GLIOMATOSIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc gamma receptor 1A

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994

G

H2B clustered histone 18

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr 2:183,838,331...183,842,769
Ensembl chr 2:183,838,334...183,841,529

G

RT1 class II, locus Db1

ClinVar Annotator: match by term: Peritoneal Gliomatosis

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

Primitive Neuroectodermal Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EWS RNA-binding protein 1

CTD Direct Evidence: marker/mechanism

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

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

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

G

hes-related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

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

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

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

G

PMS1 homolog 2, mismatch repair system component

CTD Direct Evidence: marker/mechanism

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

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

patched 1

CTD Direct Evidence: marker/mechanism

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

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

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

G

TSC complex subunit 1

ClinVar Annotator: match by term: Primitive neuroectodermal tumor

PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 More...

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

Primitive Peripheral Neuroectodermal Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

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

retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell adhesion molecule 2

mRNA, protein:decreased expression:retina

RGD

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

G

cyclin-dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

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

G

dicer 1 ribonuclease III

exacerbates

DNA:deletion:haploinsufficiency

RGD

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

G

FA complementation group M

ClinVar Annotator: match by term: Retinoblastoma

NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028

G

Fas cell surface death receptor

severity

protein:decreased expression:tumor (human)

RGD

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

G

interferon beta 1

ameliorates

RGD

NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523

G

integral membrane protein 2B

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More...

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

G

lysine demethylase 1B

mRNA:increased expression:retina (human)

RGD

NCBI chr17:17,602,961...17,643,865
Ensembl chr17:17,602,961...17,643,800

G

lysophosphatidic acid receptor 6

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 More...

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

G

MYC associated factor X

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

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

G

mediator complex subunit 4

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More...

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

G

O-6-methylguanine-DNA methyltransferase

disease_progression

DNA:hypermethylation:promoter (human)

RGD

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

G

microRNA 182

treatment

miRNA:increased expression:retina

RGD

PMID:30320366 PMID:30320366

RGD:15092072, RGD:15092072

NCBI chr 4:58,784,818...58,784,879
Ensembl chr 4:58,784,818...58,784,879

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:SNP::2756A>G(human)

RGD

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 More...

NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146

G

neurofibromin 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

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

G

nudix hydrolase 15

ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More...

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

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Retinoblastoma

PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 More...

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

G

patched 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:24728327 PMID:25741868 PMID:28492532

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

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple

OMIM
ClinVar
CTD
RGD

PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 More...

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

G

serpin family F member 1

treatment

human protein and tumor xenograft in a mouse model

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

synuclein, gamma

RGD

NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368

schwannomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine zipper like post translational regulator 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis
DNA, protein:multiple, multiple:multiple, blood (human)
DNA:multiple:multiple (human)

CTD
ClinVar
RGD

PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More...

RGD:151708709, RGD:151708708, RGD:151708704

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

G

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
DNA:multiple:multiple (human)

CTD
ClinVar
RGD

PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:24362817 More...

RGD:155804288, RGD:151708708, RGD:151708704

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

schwannomatosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by term: Schwannomatosis 1

PMID:7798645 PMID:9399891 PMID:25741868

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

G

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

susceptibility

ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic

PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More...

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

schwannomatosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Schwannomatosis 2

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More...

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

thyroid gland medullary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Medullary thyroid gland carcinoma

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

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

G

ret proto-oncogene

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

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

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

trilateral retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Trilateral retinoblastoma

PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 More...

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

vestibular schwannomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit beta 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778

G

activating signal cointegrator 1 complex subunit 2

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494

G

chromosome 14 C22orf31 homolog

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

G

calcium binding protein 7

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,598,822...79,609,172
Ensembl chr14:79,598,827...79,609,240

G

coiled-coil domain containing 117

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:80,399,236...80,409,824
Ensembl chr14:80,400,294...80,409,659

G

checkpoint kinase 2

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

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

G

EMI domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:80,000,486...80,043,561
Ensembl chr14:80,000,486...80,043,620

G

EWS RNA-binding protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

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

G

growth arrest-specific 2 like 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,955,350...79,961,830
Ensembl chr14:79,950,555...79,961,438

G

HscB mitochondrial iron-sulfur cluster co-chaperone

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909

G

kringle containing transmembrane protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516

G

myotubularin related protein 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041

G

neurofilament heavy chain

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

G

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

ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More...

RGD:151708708, RGD:151708704

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

G

nipsnap homolog 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,734,234...79,758,101
Ensembl chr14:79,734,209...79,758,098

G

RAS-like, family 10, member A

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,955,093...79,956,471
Ensembl chr14:79,954,398...79,956,468

G

rhomboid domain containing 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,994,111...80,000,294
Ensembl chr14:79,994,158...80,000,175

G

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

DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)

RGD

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

G

THO complex subunit 5

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718

G

ubiquinol-cytochrome c reductase, complex III subunit X

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,566,151...79,569,017
Ensembl chr14:79,566,157...79,569,003

G

vascular endothelial growth factor A

RGD

PMID:20406973 PMID:19587327

RGD:8547955, RGD:8547957

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

G

X-box binding protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

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

G

zinc finger, matrin type 5

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,568,644...79,599,595
Ensembl chr14:79,568,758...79,599,594

G

zinc and ring finger 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:80,157,854...80,313,456
Ensembl chr14:80,160,278...80,313,485

vipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon, alpha 1

CTD Direct Evidence: therapeutic

NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925

G

menin 1

CTD Direct Evidence: marker/mechanism

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

G

somatostatin

CTD Direct Evidence: therapeutic

NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173

Term paths to the root

Path 1
Term	Annotations
disease	18969
disease of cellular proliferation	7692
Neoplasms by Histologic Type	5288
Germ Cell and Embryonal Neoplasms	580
neuroectodermal tumor	481
astroblastoma +	289
craniopharyngioma +	8
melanotic neuroectodermal tumor	0
neuroendocrine tumor +	231
Path 2
Term	Annotations
disease	18969
disease of cellular proliferation	7692
cancer	5509
organ system cancer	5263
nervous system cancer	993
neuroectodermal tumor	481
astroblastoma +	289
craniopharyngioma +	8
melanotic neuroectodermal tumor	0
neuroendocrine tumor +	231

paths to the root