Connective and Soft Tissue Neoplasms - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Connective and Soft Tissue Neoplasms	go back to main search page
Accession:	DOID:9008612	browse the term
Definition:	Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.
Synonyms:	primary_id:	MESH:D018204

show annotations for term's descendants Sort by:
Rat (2081) Mouse (2261) Human (32734) Chinchilla (1749) Bonobo (1914) Dog (2093) Squirrel (1777) Pig (1874) Green Monkey (1864) Naked Mole-rat (1729) All
Genes (1884) Cell Lines (209)

Abdominal Fibromatosis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

adenomatoid tumor

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RGD Reference(s)

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G

TNF receptor associated factor 7

DNA:missense mutations:multiple

NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167

Adult Cerebral Astrocytoma

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RGD Reference(s)

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G

matrix metallopeptidase 1

susceptibility

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

NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648

adult spinal cord ependymoma

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RGD Reference(s)

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G

chromodomain helicase DNA binding protein 6

ClinVar Annotator: match by term: Adult spinal cord ependymoma

NCBI chr24:29,397,320...29,601,206
Ensembl chr24:29,397,306...29,601,350

Aggressive Fibromatosis

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RGD Reference(s)

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G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

cellular communication network factor 2

mRNA:increased expression:tumor (human)

NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145

G

catenin beta 1

ClinVar Annotator: match by term: Aggressive fibromatosis

PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More...

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

serpin family E member 1

susceptibility

associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

AIDS-Related Kaposi Sarcoma

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G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

interleukin 32

mRNA:increased expression:zone of skin, blood serum (human)

NCBI chr 6:38,119,287...38,122,979

alveolar rhabdomyosarcoma

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forkhead box O1

NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825

G

paired box 3

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma

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

NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561

G

paired box 7

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2

PMID:25741868 PMID:31092906 PMID:32214227

NCBI chr 2:79,813,835...79,952,490
Ensembl chr 2:79,815,748...79,915,003

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839

G

WW domain containing transcription regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:44,277,707...44,409,911
Ensembl chr23:44,278,557...44,410,007

alveolar soft part sarcoma

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ASPSCR1 tether for SLC2A4, UBX domain containing

NCBI chr 9:308,017...331,238
Ensembl chr 9:307,028...331,243

ameloblastoma

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G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033

anaplastic astrocytoma

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G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Astrocytoma, anaplastic

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

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

tumor protein p53

ClinVar Annotator: match by term: Astrocytoma, anaplastic

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

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

anaplastic ependymoma

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partner and localizer of BRCA2

ClinVar Annotator: match by term: Anaplastic ependymoma

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

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

ring finger protein 213

ClinVar Annotator: match by term: Anaplastic ependymoma

NCBI chr 9:1,439,061...1,506,658
Ensembl chr 9:1,440,364...1,506,951

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Anaplastic ependymoma

PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More...

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

anaplastic oligodendroglioma

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capicua transcriptional repressor

ClinVar Annotator: match by term: Anaplastic oligodendroglioma

NCBI chr 1:112,081,775...112,105,093
Ensembl chr 1:112,082,265...112,105,082

Angiomatoid Fibrous Histiocytoma

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cAMP responsive element binding protein 1

NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556

angiomyolipoma

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8-oxoguanine DNA glycosylase

no_association

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

PMID:17932460 PMID:19265534

RGD:8657154 RGD:8657155

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

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phosphatase and tensin homolog

protein:increased expression:kidney (human)

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:kidney

NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:kidney

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

TSC complex subunit 2

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

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

angiosarcoma

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angiopoietin 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

collagen type XVIII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr31:38,915,872...38,957,484

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

fms related receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621

G

gap junction protein alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:7,167,665...7,170,388

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:50,966,698...50,968,939

G

potassium calcium-activated channel subfamily N member 4

ameliorates

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

NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701

G

kinase insert domain receptor

CTD Direct Evidence: marker/mechanism

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Angiosarcoma

PMID:8456858 PMID:20147967 PMID:21371307 PMID:24740626 PMID:25157968 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

mediator complex subunit 12

ClinVar Annotator: match by term: Angiosarcoma

NCBI chr X:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism
associated with neoplasms, radiation-induced; DNA:amplification: (human)

PMID:17569031 PMID:26440310

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

phospholipase C gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:29,198,536...29,213,899
Ensembl chr24:29,198,556...29,214,714

G

protein tyrosine phosphatase receptor type B

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

PMID:24633157 PMID:26440310

RGD:151361292 RGD:151665099

NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435

G

signal transducer and activator of transcription 3

protein:increased phosphorylation:blood vessel

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

TEK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr11:45,278,375...45,377,300
Ensembl chr11:45,278,891...45,409,093

G

tumor protein p53

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

PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

vascular endothelial growth factor C

CTD Direct Evidence: marker/mechanism

NCBI chr16:52,883,242...52,987,684
Ensembl chr16:52,883,139...52,987,563

astroblastoma

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G

microRNA mir-542

disease_progression

NCBI chr X:105,178,359...105,178,417
Ensembl chr X:105,178,347...105,178,430

G

phosphoinositide-3-kinase regulatory subunit 1

severity

PMID:26286747 PMID:26956052

RGD:11343921 RGD:13782052

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Neuroepithelial neoplasm

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844

NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917

astroblastoma, MN1-altered

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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 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

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chromosome 5 C11orf65 homolog

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

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

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

G

TSC complex subunit 2

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

PMID:25741868 PMID:28492532

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

atypical teratoid rhabdoid tumor

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ATRX chromatin remodeler

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

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

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

glypican 3

protein:increased expression:brain (human)

NCBI chr X:104,313,426...104,751,215
Ensembl chr X:104,313,591...104,751,756

G

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

ClinVar Annotator: match by term: Teratoid tumor, atypical

NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783

G

tumor protein p53

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

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

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

Avian Sarcoma

term browser

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RGD Reference(s)

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ras homolog family member B

NCBI chr17:15,438,744...15,439,793
Ensembl chr17:15,439,143...15,441,136

bone giant cell tumor

term browser

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G

H3.3 histone A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:38,797,168...38,805,417
Ensembl chr 7:38,797,448...38,805,416

bone osteosarcoma

term browser

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PubMed Reference(s)

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G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

checkpoint kinase 2

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

EGF containing fibulin extracellular matrix protein 2

disease_progression
exacerbates

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

PMID:27157136 PMID:28339091

RGD:42722011 RGD:42722013

NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107

G

ERCC excision repair 2, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 More...

NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

tumor protein p53

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

TSC complex subunit 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:25741868 PMID:26822237

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

Bone Tissue Neoplasms

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glutamate metabotropic receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134

brain glioblastoma multiforme

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eukaryotic translation elongation factor 2

protein:increased expression:brain (human)

NCBI chr20:55,577,413...55,586,422
Ensembl chr20:55,522,213...55,586,126

G

microRNA mir-139

RNA:decreased expression:brain:

NCBI chr21:25,597,025...25,597,081
Ensembl chr21:25,597,024...25,597,080

G

neural cell adhesion molecule 1

disease_progression

NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995

G

SUFU negative regulator of hedgehog signaling

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

NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389

brain glioma

term browser

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BCL2 associated X, apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464

G

BCL2 apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 9:2,930,308...2,959,307

G

bone marrow stromal cell antigen 2

mRNA,protein:increased expression:brain:

NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178

G

caspase 3

treatment

NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505

G

Fas associated via death domain

treatment

NCBI chr18:48,087,447...48,094,497

G

Fas cell surface death receptor

treatment

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

Fas ligand

treatment

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

forkhead box A1

disease_progression

NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807

G

kinase insert domain receptor

protein:increased expression:brain (human)

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

glyceraldehyde-3-phosphate dehydrogenase-like

NCBI chr X:51,925,654...51,926,724

G

microRNA mir-21

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

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

protein tyrosine phosphatase receptor type B

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

PMID:16923162 PMID:33900414

RGD:151660356 RGD:151660368

NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435

G

vascular endothelial growth factor A

protein:increased expression:brain (human)

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

G

X-ray repair cross complementing 3

susceptibility

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

NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408

brain stem glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 3

mRNA,protein:increased expression:brain stem:

NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561

G

platelet derived growth factor receptor alpha

severity

NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278

breast angiosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

DNA:mutation:multiple (human)

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

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

DNA:mutation:multiple (human)

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

protein tyrosine phosphatase receptor type B

DNA:mutation:multiple (human)

NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435

breast fibroadenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 7B

mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas

NCBI chr10:20,160,916...20,208,786
Ensembl chr10:20,160,206...20,243,160

capillary hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Capillary hemangioma

PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More...

NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112

G

cellular communication network factor 1

disease_progression

mRNA:increased expression:skin (human)

NCBI chr 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Capillary hemangioma

NCBI chr 7:64,764,941...64,802,507
Ensembl chr 7:64,760,121...64,802,902

carcinosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

Carney complex

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A golgi associated secretory pathway pseudokinase

ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1

PMID:11115848 PMID:19293268 PMID:24170103 PMID:25741868 PMID:28492532

NCBI chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: CARNEY MYXOMA-ENDOCRINE COMPLEX | ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 | ClinVar Annotator: match by term: Carney myxoma-endocrine complex | ClinVar Annotator: match by term: Myxoma, spotty pigmentation, and endocrine overactivity

PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12213893 More...

NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683

Carney Complex Variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 8

ClinVar Annotator: match by term: Carney complex variant

PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More...

NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574

Carney Triad

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA

PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More...

NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA

PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More...

NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA

PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More...

NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333

Carney-Stratakis syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,211,533...21,323,851

G

BTG anti-proliferation factor 4

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,559,307...21,578,314
Ensembl chr 5:21,559,298...21,592,854

G

chromosome 5 C11orf52 homolog

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,168,810...21,177,594
Ensembl chr 5:21,169,460...21,176,171

G

cilia and flagella associated protein 68

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,199,494...21,205,441
Ensembl chr 5:21,201,326...21,205,111

G

crystallin alpha B

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132

G

DIX domain containing 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,097,000...21,168,470
Ensembl chr 5:21,100,045...21,167,166

G

dihydrolipoamide S-acetyltransferase

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153

G

ferredoxin-fold anticodon binding domain containing 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,205,520...21,210,629

G

HOATZ cilia and flagella associated protein

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,533,859...21,558,543
Ensembl chr 5:21,534,298...21,557,384

G

heat shock protein family B (small) member 2

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,179,875...21,181,096
Ensembl chr 5:21,179,881...21,181,017

G

layilin

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,509,143...21,531,390
Ensembl chr 5:21,512,026...21,531,641

G

microRNA mir-34b

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,558,685...21,558,768
Ensembl chr 5:21,558,685...21,558,768

G

microRNA mir-34c

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,558,106...21,558,160

G

myelin protein zero

ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor

PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532

NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451

G

NKAP domain containing 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,042,931...21,053,891
Ensembl chr 5:21,044,817...21,053,847

G

PIH1 domain containing 2

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,053,927...21,060,591
Ensembl chr 5:21,053,216...21,063,122

G

POU class 2 homeobox associating factor 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,671,000...21,695,757
Ensembl chr 5:21,628,439...21,694,773

G

POU class 2 homeobox associating factor 3

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,731,093...21,740,770

G

protein phosphatase 2 scaffold subunit Abeta

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,323,956...21,356,835
Ensembl chr 5:21,322,059...21,394,193

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor

PMID:9509062 PMID:11404820 PMID:11897817 PMID:12362046 PMID:12364472 More...

NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor

PMID:9536098 PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 More...

NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333

G

succinate dehydrogenase complex subunit D

ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor

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

NCBI chr 5:21,030,295...21,041,125

G

salt inducible kinase 2

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,354,127...21,479,891
Ensembl chr 5:21,358,902...21,479,841

G

translocase of inner mitochondrial membrane 8 homolog B

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 5:21,041,139...21,042,769
Ensembl chr 5:21,040,715...21,042,769

cavernous sinus meningioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dihydrofolate reductase

ClinVar Annotator: match by term: Cavernous sinus meningioma

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

NCBI chr 3:26,521,214...26,556,065

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:21671394 PMID:22126750 PMID:28492532

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

G

mutS homolog 3

ClinVar Annotator: match by term: Cavernous sinus meningioma

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

NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521

cerebellar angioblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Cerebellar hemangioblastoma

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

NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323

cerebellar medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

ClinVar Annotator: match by term: Cerebellar medulloblastoma

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

childhood astrocytic tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

susceptibility
ameliorates

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

NCBI chr24:47,219,977...47,248,791

childhood pilocytic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen-activated protein kinase 1

protein:increased expression:brain:

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

chondrodysplasia Blomstrand type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin light chain 3

ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779

G

parathyroid hormone 1 receptor

ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More...

NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794

chondroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

PMID:22057234 PMID:25895133

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

PMID:22057234 PMID:25895133

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

Indian hedgehog signaling molecule

NCBI chr37:25,616,942...25,622,989

G

protein tyrosine phosphatase non-receptor type 11

DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human)

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

smoothened, frizzled class receptor

treatment

NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033

chondrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chitinase 3 like 1

mRNA:increased expression:tumor (human)

NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427

G

collagen type II alpha 1 chain

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

NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

G

exostosin glycosyltransferase 1

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

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

NCBI chr13:17,172,497...17,457,084
Ensembl chr13:17,172,705...17,456,469

G

fibroblast growth factor receptor 3

protein:increased expression:growth plate

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

mechanistic target of rapamycin kinase

disease_progression

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

G

TATA-box binding protein associated factor 15

extraskeletal myxoid chondrosarcomas (EMC)

NCBI chr 9:37,842,772...37,873,302
Ensembl chr 9:37,842,772...37,873,094

chordoid glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase C alpha

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

NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630

chordoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Chordoma

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

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

MN1 proto-oncogene, transcriptional regulator

ClinVar Annotator: match by term: Chordoma

NCBI chr26:21,216,912...21,261,518
Ensembl chr26:21,216,837...21,261,031

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Chordoma

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

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

T-box transcription factor T

CTD Direct Evidence: marker/mechanism

PMID:19801981 PMID:23064415

NCBI chr 1:54,183,495...54,192,331
Ensembl chr 1:54,183,153...54,192,352

choriocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468

G

insulin like growth factor 2

disease_progression

protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

G

insulin receptor

disease_progression

protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

TIMP metallopeptidase inhibitor 3

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

NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288

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 chr22:30,545,991...30,557,199
Ensembl chr22:30,547,271...30,555,510

G

ALG11 alpha-1,2-mannosyltransferase

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

NCBI chr22:149,538...162,206
Ensembl chr22:151,641...162,512

G

ATPase copper transporting beta

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

NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266

G

BORA aurora kinase A activator

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

NCBI chr22:26,880,351...26,906,226
Ensembl chr22:26,879,933...26,906,278

G

calcium binding protein 39 like

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

NCBI chr22:2,319,239...2,426,554
Ensembl chr22:2,354,884...2,460,857

G

coiled-coil domain containing 70

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

NCBI chr22:258,746...263,908
Ensembl chr22:258,880...259,563

G

cytidine and dCMP deaminase domain containing 1

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

NCBI chr22:2,443,459...2,489,147
Ensembl chr22:2,436,206...2,489,016

G

cytoskeleton associated protein 2

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

NCBI chr25:134,914...190,810
Ensembl chr25:135,586...150,835

G

CLN5 intracellular trafficking protein

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

NCBI chr22:30,568,572...30,575,890
Ensembl chr22:30,568,572...30,575,890

G

chondromodulin

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

NCBI chr22:9,745,959...9,792,663
Ensembl chr22:9,753,441...9,759,713

G

COMM domain containing 6

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

NCBI chr22:29,318,216...29,336,032
Ensembl chr22:29,318,231...29,336,062

G

cysteinyl leukotriene receptor 2

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

NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551

G

dachshund family transcription factor 1

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

NCBI chr22:25,690,700...25,934,449
Ensembl chr22:25,726,597...25,934,550

G

diaphanous related formin 3

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

NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031

G

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

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

NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033

G

EBP like

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

NCBI chr22:2,116,588...2,137,935
Ensembl chr22:2,116,131...2,182,633

G

endothelin receptor type B

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

NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587

G

family with sequence similarity 124 member A

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

NCBI chr22:786,588...809,284

G

F-box and leucine rich repeat protein 3

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

NCBI chr22:30,579,598...30,598,879
Ensembl chr22:30,581,474...30,598,886

G

fibronectin type III domain containing 3A

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

NCBI chr22:2,524,173...2,700,223
Ensembl chr22:2,526,381...2,700,780

G

integrator complex subunit 6

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

NCBI chr22:549,221...636,810
Ensembl chr22:549,179...636,523

G

integral membrane protein 2B

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

NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433

G

potassium channel regulator

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

NCBI chr22:1,870,964...1,875,849

G

potassium channel tetramerization domain containing 12

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

NCBI chr22:30,506,906...30,508,782
Ensembl chr22:30,503,932...30,508,632

G

KLF transcription factor 12

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

NCBI chr22:27,695,017...28,264,813
Ensembl chr22:27,704,686...28,123,099

G

KLF transcription factor 5

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

NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871

G

kelch like family member 1

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

NCBI chr22:24,190,862...24,554,451
Ensembl chr22:24,191,778...24,555,120

G

karyopherin subunit alpha 3

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

NCBI chr22:2,064,733...2,110,524
Ensembl chr22:2,064,731...2,108,414

G

LIM domain 7

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

NCBI chr22:29,415,374...29,619,215
Ensembl chr22:29,415,337...29,618,667

G

keratin-associated protein 6-2-like

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

NCBI chr31:25,744,080...25,745,146

G

heterogeneous nuclear ribonucleoprotein A1-like

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

NCBI chr27:9,641,849...9,642,889

G

lysophosphatidic acid receptor 6

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

NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499

G

mediator complex subunit 4

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

NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608

G

microRNA mir-15a

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

NCBI chr22:1,846,880...1,846,938
Ensembl chr22:1,846,866...1,846,960

G

microRNA mir-16-1

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

NCBI chr22:1,847,020...1,847,084
Ensembl chr22:1,847,007...1,847,093

G

motilin receptor

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

NCBI chr22:2,513,218...2,515,380
Ensembl chr22:2,513,218...2,515,380

G

MYC binding protein 2

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

NCBI chr22:30,614,692...30,874,173
Ensembl chr22:30,615,369...30,874,370

G

mitotic spindle organizing protein 1

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

NCBI chr22:26,862,454...26,880,213
Ensembl chr22:26,863,674...26,880,126

G

Nedd4 family interacting protein 2

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

NCBI chr22:32,723,052...32,789,409
Ensembl chr22:32,704,437...32,787,151

G

NIMA related kinase 3

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

NCBI chr25:118,558...130,901

G

NIMA related kinase 5

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

NCBI chr22:108,089...134,987

G

nudix hydrolase 15

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

NCBI chr22:3,416,702...3,424,607
Ensembl chr22:3,416,578...3,424,409

G

ORC ubiquitin ligase 1

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

NCBI chr22:32,006,441...32,047,609
Ensembl chr22:32,007,210...32,047,527

G

olfactomedin 4

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

NCBI chr22:10,053,494...10,075,759
Ensembl chr22:9,944,025...10,074,722

G

protocadherin 17

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

NCBI chr22:13,865,138...13,962,110
Ensembl chr22:13,865,900...13,958,405

G

protocadherin 20

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

NCBI chr22:17,150,498...17,156,091
Ensembl chr22:17,151,913...17,155,892

G

protocadherin 8

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

NCBI chr22:9,860,590...9,865,298
Ensembl chr22:9,860,827...9,865,412

G

protocadherin 9

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

NCBI chr22:21,326,040...22,212,847
Ensembl chr22:21,327,856...22,213,083

G

PHD finger protein 11

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

NCBI chr22:2,235,758...2,263,772

G

progesterone immunomodulatory binding factor 1

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

NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308

G

POU class 4 homeobox 1

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

NCBI chr22:31,992,657...31,997,066

G

RB transcriptional corepressor 1

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

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

RNA binding motif protein 26

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

NCBI chr22:32,579,401...32,664,370
Ensembl chr22:32,581,825...32,664,714

G

RCC1 and BTB domain containing protein 1

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

NCBI chr22:2,183,089...2,230,748
Ensembl chr22:2,198,185...2,229,485

G

RCC1 and BTB domain containing protein 2

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

NCBI chr22:3,018,628...3,051,059
Ensembl chr22:3,018,137...3,051,269

G

ribonuclease H2 subunit B

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

NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223

G

sciellin

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

NCBI chr22:30,874,267...31,171,598
Ensembl chr22:31,045,878...31,171,033

G

serpin family E member 3

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

NCBI chr22:637,600...666,028
Ensembl chr22:636,466...663,695

G

SET domain bifurcated histone lysine methyltransferase 2

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

NCBI chr22:2,263,990...2,319,249
Ensembl chr22:2,244,507...2,319,158

G

SLAIN motif family member 1

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

NCBI chr22:31,199,494...31,258,920
Ensembl chr22:31,199,533...31,258,021

G

SLIT and NTRK like family member 1

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

NCBI chr22:36,325,548...36,329,784
Ensembl chr22:36,326,751...36,328,841

G

SLIT and NTRK like family member 6

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

NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177

G

sprouty RTK signaling antagonist 2

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

NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878

G

SPRY domain containing 7

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

NCBI chr22:1,929,814...1,947,506
Ensembl chr22:1,849,634...1,945,276

G

succinate-CoA ligase ADP-forming subunit beta

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

NCBI chr22:3,440,908...3,478,683
Ensembl chr22:3,440,923...3,478,683

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

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

NCBI chr22:9,682,026...9,723,412
Ensembl chr22:9,682,169...9,722,979

G

TBC1 domain family member 4

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

NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154

G

tudor domain containing 3

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

NCBI chr22:16,287,721...16,449,842
Ensembl chr22:16,288,473...16,444,635

G

thrombospondin type 1 domain containing 1

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

NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560

G

tripartite motif containing 13

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

NCBI chr22:1,877,672...1,893,097
Ensembl chr22:1,871,181...1,910,055

G

ubiquitin C-terminal hydrolase L3

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

NCBI chr22:29,348,962...29,397,944
Ensembl chr22:29,348,706...29,407,965

G

vacuolar protein sorting 36 homolog

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

NCBI chr25:150,984...191,531
Ensembl chr25:150,150...191,544

G

WD repeat and FYVE domain containing 2

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

NCBI chr22:304,250...467,909
Ensembl chr22:304,884...428,223

CIC-rearranged sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: CIC-DUX Sarcoma

PMID:25741868 PMID:28492532

NCBI chr 5:31,681,605...31,683,261

G

upstream transcription factor family member 3

ClinVar Annotator: match by term: CIC-rearranged sarcoma

NCBI chr33:17,945,852...17,994,348
Ensembl chr33:17,948,228...17,968,319

clear cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:34,621,314...34,735,502
Ensembl chr X:34,621,886...34,645,766

CLOVES syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha 11

ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

PMID:25741868 PMID:27476652

G

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

ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

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

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: CLOVES syndrome

PMID:25741868 PMID:34040190

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

congenital fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Congenital fibrosarcoma

NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389

G

tumor protein p53

ClinVar Annotator: match by term: Infantile fibrosarcoma

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

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

corpus callosum lipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Corpus callosum lipoma

NCBI chr 5:16,367,737...16,389,991
Ensembl chr 5:16,367,116...16,390,006

cutaneous mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Cutaneous mastocytosis

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

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

G

KIT ligand

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974

dermatofibrosarcoma protuberans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

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

PMID:12641779 PMID:22153773

RGD:2292195 RGD:5688300

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans

PMID:25741868 PMID:28492532

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

dermoid cyst of ovary

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O3

OMIM:166950

NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198

desmoid tumor

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: Desmoid tumor

PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More...

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid tumor

PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More...

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

desmoplastic small round cell tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 17

ClinVar Annotator: match by term: Desmoplastic small round cell tumor

NCBI chr 6:30,842,269...30,846,124
Ensembl chr 6:30,841,152...30,845,905

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 chr28:14,972,512...14,990,434
Ensembl chr28:14,972,515...14,990,434

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882

G

ADP ribosylation factor like GTPase 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,152,762...15,189,043
Ensembl chr28:15,142,485...15,188,903

G

arsenite methyltransferase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,334,141...15,350,749

G

ATP synthase membrane subunit k

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,761,732...15,767,892
Ensembl chr 1:40,605,100...40,605,276

G

BLOC-1 related complex subunit 7

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,314,219...15,324,522
Ensembl chr28:15,314,266...15,350,714

G

chromosome 28 C10orf95 homolog

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:14,947,869...14,949,414
Ensembl chr28:14,948,373...14,949,032

G

calcium homeostasis modulator 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,821,121...15,826,029
Ensembl chr28:15,814,429...15,825,924

G

calcium homeostasis modulator family member 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,813,891...15,818,754
Ensembl chr28:15,814,429...15,825,924

G

calcium homeostasis modulator 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,833,952...15,843,640
Ensembl chr28:15,833,838...15,839,995

G

cilia and flagella associated protein 43

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,443,417...16,555,027
Ensembl chr28:16,443,389...16,555,792

G

cilia and flagella associated protein 58

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,653,212...16,752,229
Ensembl chr28:16,653,208...16,751,838

G

cyclin and CBS domain divalent metal cation transport mediator 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,366,035...15,515,261
Ensembl chr28:15,366,601...15,514,886

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056

G

CCCTC-binding factor

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655

G

cytochrome P450 family 17 subfamily A member 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852

G

glutathione S-transferase omega 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,569,421...16,579,239
Ensembl chr28:16,569,066...16,619,880

G

glutathione S-transferase omega 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976

G

internexin neuronal intermediate filament protein alpha

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,670,919...15,685,080
Ensembl chr28:15,670,999...15,683,380

G

inositol 1,4,5-trisphosphate receptor interacting protein

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,613,934...16,638,058

G

major facilitator superfamily domain containing 13A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:14,957,194...14,971,002
Ensembl chr28:14,964,992...14,972,051

G

microRNA mir-1307

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,765,927...15,765,986
Ensembl chr28:15,765,918...15,765,997

G

neuralized E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,856,494...15,935,897
Ensembl chr28:15,856,616...15,933,763

G

5'-nucleotidase, cytosolic II

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235

G

polycomb group ring finger 6

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,697,707...15,733,177
Ensembl chr28:15,605,040...15,733,097

G

programmed cell death 11

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,767,936...15,812,285
Ensembl chr28:15,769,845...15,812,279

G

SWI5 dependent homologous recombination repair protein 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,436,261...16,440,219
Ensembl chr28:16,436,377...16,439,742

G

sideroflexin 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,189,093...15,213,118
Ensembl chr28:15,154,951...15,212,337

G

SH3 and PX domains 2A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,936,927...16,165,537
Ensembl chr28:15,943,097...16,117,710

G

STE20 like kinase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,286,827...16,347,766
Ensembl chr28:16,286,688...16,346,368

G

sortilin related VPS10 domain containing receptor 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,909,908...17,491,097
Ensembl chr28:16,909,856...17,489,418

G

STN1 subunit of CST complex

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:16,203,607...16,246,468
Ensembl chr28:16,204,073...16,246,058

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389

G

TATA-box binding protein associated factor 5

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,747,102...15,761,744
Ensembl chr28:15,747,120...15,760,901

G

tripartite motif containing 8

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,124,310...15,138,660
Ensembl chr28:15,123,348...15,146,355

G

WW domain binding protein 1 like

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:15,218,883...15,285,211
Ensembl chr28:15,218,775...15,282,416

diaphyseal medullary stenosis with malignant fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

methylthioadenosine phosphorylase

ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY

PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More...

NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504

diffuse cutaneous mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS

PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More...

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

diffuse intrinsic pontine glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 More...

NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:25741868 PMID:28492532

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

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

PMID:25741868 PMID:28492532

NCBI chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841

G

BRCA2 DNA repair associated

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

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

cyclin dependent kinase 4

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

PMID:25741868 PMID:28492532

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

FA complementation group A

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

NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823

G

fibroblast growth factor receptor 3

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

PMID:25741868 PMID:28492532

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

isocitrate dehydrogenase (NADP(+)) 1

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

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

lysine demethylase 5B

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

NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386

G

neurofibromin 1

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

PMID:25741868 PMID:26740943 PMID:28492532 PMID:31882575

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

partner and localizer of BRCA2

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

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

PMS1 homolog 2, mismatch repair system component

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

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

NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940

G

ret proto-oncogene

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

PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

G

succinate dehydrogenase complex flavoprotein subunit A

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

PMID:25741868 PMID:28492532

NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189

G

tumor protein p53

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

PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tetraspanin 31

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

PMID:25741868 PMID:28492532

NCBI chr10:1,810,047...1,812,702
Ensembl chr10:1,810,159...1,812,692

dysembryoplastic neuroepithelial tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

embryonal rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:34,621,314...34,735,502
Ensembl chr X:34,621,886...34,645,766

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:26,290,903...28,444,635
Ensembl chr X:26,290,910...28,333,576

G

myogenic differentiation 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:26619011 PMID:26822237

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251

Embryonal Rhabdomyosarcoma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 22 member 18

NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006

Embryonal Rhabdomyosarcoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2

PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 More...

NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879

endodermal sinus tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha fetoprotein

protein:increased expression:serum

NCBI chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709

G

catenin beta 1

mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468

G

spalt like transcription factor 4

protein:increased expression:testis, nucleus (human)

NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355

G

Wnt family member 2B

mRNA:increased expression:tumor

NCBI chr17:63,034,719...63,054,369
Ensembl chr17:63,035,883...63,047,956

endometrial stromal sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

protein:increased expression:tumor:increased in 6/8 (75%) of tumors

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

Ependymomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BAF chromatin remodeling complex subunit BCL7C

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,305,670...17,354,375
Ensembl chr 6:17,293,776...17,340,526

G

EPH receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714

G

insulin like growth factor 2

mRNA:increased expression:cerebellum

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

G

RAB3A, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr20:44,796,740...44,802,224
Ensembl chr20:44,796,895...44,801,692

G

retbindin

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223

G

SHC adaptor protein 3

DNA:amplification:brain:

NCBI chr 1:97,019,545...97,100,905
Ensembl chr 1:97,019,928...97,094,844

G

zinc finger protein 668

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,157,767...17,166,397
Ensembl chr 6:17,158,384...17,166,174

Epithelioid Leiomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 5 chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679

G

collagen type IV alpha 6 chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:81,690,047...81,981,005
Ensembl chr X:81,691,417...81,980,703

epithelioid sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

protein:decreased expression:epithelial cell:

NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783

Ewing sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

CD99 molecule

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

NCBI chr X:1,369,316...1,430,527

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

CDKN1A interacting zinc finger protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945

G

early growth response 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497

G

EWS RNA binding protein 1

ClinVar Annotator: match by term: Ewing sarcoma

PMID:25741868 PMID:28492532

NCBI chr26:22,578,782...22,608,174
Ensembl chr26:22,578,848...22,608,174

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

PMID:11772151 PMID:16646077 PMID:26214589

NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822

G

lysine demethylase 3A

mRNA:increased expression:bone marrow (human)

NCBI chr17:38,690,962...38,744,507
Ensembl chr17:38,690,979...38,743,739

G

neurofibromin 1

ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor

PMID:7607663 PMID:9385374 PMID:9463322 PMID:10494088 PMID:10607834 More...

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

tetraspanin 31

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr10:1,810,047...1,812,702
Ensembl chr10:1,810,159...1,812,692

Experimental Sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkylglycerone phosphate synthase

NCBI chr36:21,131,616...21,264,615
Ensembl chr36:21,131,641...21,329,467

G

albumin

mRNA,protein:decreased expression:liver,serum:

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

interferon gamma

treatment

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

KRAS proto-oncogene, GTPase

A to T transversion; Gln to His substitution

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

NRAS proto-oncogene, GTPase

DNA:transversion:exon p.Q61L (human)

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

solute carrier family 6 member 14

mRNA, protein:increased expression:brush border epithelial cell

NCBI chr X:88,939,176...88,965,093
Ensembl chr X:88,938,727...88,965,101

extraosseous Ewing sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ret proto-oncogene

ClinVar Annotator: match by term: Ewing sarcoma of soft tissue

PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

extraskeletal myxoid chondrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor subfamily 4 group A member 3

NCBI chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689

G

TATA-box binding protein associated factor 15

ClinVar Annotator: match by term: TAF15-related condition

PMID:25741868 PMID:28492532

NCBI chr 9:37,842,772...37,873,302
Ensembl chr 9:37,842,772...37,873,094

Familial Atrial Myxoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Familial atrial myxoma

PMID:1263542 PMID:10973256 PMID:25741868 PMID:28492532

NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683

Familial Cystic Parathyroid Adenomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 73

ClinVar Annotator: match by term: Cystic parathyroid adenoma

NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111

familial glomangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glomulin, FKBP associated protein

ClinVar Annotator: match by term: Familial glomangioma

PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More...

NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399

familial retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Hereditary retinoblastoma

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

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

fibrillary astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

Fibroadenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FOS like 1, AP-1 transcription factor subunit

mRNA, protein:increased expression:breast

NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748

G

mediator complex subunit 12

CTD Direct Evidence: marker/mechanism

PMID:25038752 PMID:26437033

NCBI chr X:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992

G

retinoic acid receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,254,803...22,298,614
Ensembl chr 9:22,254,806...22,289,459

G

Wnt family member 2

mRNA:increased expression:breast

NCBI chr14:56,123,735...56,172,113
Ensembl chr14:56,129,248...56,172,069

G

Wnt family member 4

breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001)

NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111

fibroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 2

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:12973667 PMID:14508707

NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071

G

BRF1 RNA polymerase III transcription initiation factor subunit

NCBI chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263

G

glutamate metabotropic receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134

fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

discoidin domain receptor tyrosine kinase 2

ameliorates

DNA:deletion:exons:

NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275

G

early growth response 1

human tumor line expressing mouse gene in mouse model

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

ERCC excision repair 6, chromatin remodeling factor

susceptibility

NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162

G

cell division cycle 42

NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

serpin family E member 1

severity

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

telomerase reverse transcriptase

treatment

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

TNF receptor superfamily member 1A

human gene in mouse model

NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282

fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multifunctional ROCO family signaling regulator 1

NCBI chr16:35,579,531...35,676,552
Ensembl chr16:35,579,585...35,674,063

G

matrix metallopeptidase 21

CTD Direct Evidence: marker/mechanism

NCBI chr28:34,936,976...34,944,110
Ensembl chr28:34,935,186...34,944,316

follicular dendritic cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma

PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 More...

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

gastrointestinal stromal tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminoadipate-semialdehyde dehydrogenase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532

NCBI chr13:48,574,839...48,611,770
Ensembl chr13:48,572,220...48,611,775

G

ATP binding cassette subfamily B member 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:9,711,509...9,746,785
Ensembl chr 4:9,711,100...9,745,106

G

ABL proto-oncogene 2, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,696,659...20,735,362
Ensembl chr 7:20,700,144...20,727,410

G

acyl-CoA binding domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,713,729...38,733,138
Ensembl chr 7:38,714,592...38,731,558

G

acyl-CoA binding domain containing 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:13,836,665...14,043,996
Ensembl chr 7:13,836,667...14,044,156

G

atypical chemokine receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,762,584...22,765,330
Ensembl chr38:22,758,013...22,763,958

G

acid phosphatase 6, lysophosphatidic

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,213,016...58,230,934
Ensembl chr17:58,193,586...58,230,491

G

actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530

G

actinin alpha 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273

G

ADAM metallopeptidase domain 15

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,432,067...42,443,463
Ensembl chr 7:42,428,113...42,443,429

G

ADAM metallopeptidase with thrombospondin type 1 motif 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,283,555...21,292,432
Ensembl chr38:21,284,330...21,292,437

G

ADAMTS like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980

G

adenosine deaminase RNA specific

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999

G

adenylate cyclase 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,576,445...30,660,926
Ensembl chr 7:30,577,591...30,660,926

G

adiponectin receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:240,035...254,287
Ensembl chr 7:240,065...282,845

G

adenosine A1 receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051

G

adenylosuccinate synthase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795

G

angiotensinogen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

AT-hook containing transcription factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:37,550,045...37,627,428
Ensembl chr 7:37,543,496...37,627,131

G

axin interactor, dorsalization associated

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:16,938,279...16,971,200
Ensembl chr38:16,939,556...16,971,200

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112

G

aldehyde dehydrogenase 9 family member A1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:17,644,464...17,664,462
Ensembl chr38:17,644,459...17,663,886

G

angel homolog 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:11,112,077...11,130,736
Ensembl chr 7:11,114,059...11,152,197

G

angiopoietin like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,919,192...20,945,140
Ensembl chr 7:20,919,214...20,940,792

G

ankyrin repeat domain 34A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,749,788...58,771,464
Ensembl chr17:58,750,678...58,752,234

G

ankyrin repeat domain 35

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,665,626...58,682,761
Ensembl chr17:58,665,905...58,682,398

G

ankyrin repeat domain 45

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,508,417...25,560,123
Ensembl chr 7:25,508,239...25,659,475

G

acidic nuclear phosphoprotein 32 family member E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,460,864...59,482,467
Ensembl chr17:59,462,766...59,477,936

G

annexin A9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,084,296...60,098,631
Ensembl chr17:60,084,241...60,094,136

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine

PMID:25741868 PMID:26530882 PMID:28492532

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

aph-1 homolog A, gamma-secretase subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,510,805...59,514,431
Ensembl chr17:59,502,523...59,514,403

G

apolipoprotein A2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887

G

apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,994,642...17,002,609
Ensembl chr 7:16,997,022...17,001,790

G

aquaporin 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,961,041...42,964,053

G

ARF GTPase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:835,476...836,424
Ensembl chr14:835,476...836,424

G

Rho GTPase activating protein 30

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,395,102...21,412,047
Ensembl chr38:21,395,373...21,412,047

G

Rho guanine nucleotide exchange factor 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,011,956...41,098,134
Ensembl chr 7:41,011,830...41,097,487

G

Rho/Rac guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,835,322...41,850,488
Ensembl chr 7:41,812,353...41,850,488

G

AT-rich interaction domain 4B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:4,602,470...4,752,060
Ensembl chr 4:4,602,667...4,750,469

G

ARF like GTPase 8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:875,679...877,184

G

ADP ribosylation factor like GTPase 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532

NCBI chr13:48,719,660...48,738,367
Ensembl chr13:48,719,798...48,738,294

G

aryl hydrocarbon receptor nuclear translocator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

Ensembl chr17:59,941,353...60,010,867
Ensembl chr17:59,941,353...60,010,867

G

actin related protein 2/3 complex subunit 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,976,392...16,986,015
Ensembl chr 7:16,977,555...16,985,943

G

ARV1 homolog, fatty acid homeostasis modulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,409,039...8,424,776
Ensembl chr 4:8,409,484...8,424,644

G

achaete-scute family bHLH transcription factor 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,106,480...2,107,046

G

ASH1 like histone lysine methyltransferase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,046,262...42,227,737
Ensembl chr 7:42,046,569...42,225,456

G

assembly factor for spindle microtubules

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:5,591,530...5,663,673
Ensembl chr 7:5,590,957...5,660,919

G

astrotactin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:22,455,117...22,752,044
Ensembl chr 7:22,455,499...22,757,029

G

activating transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,784,445...10,795,285
Ensembl chr 7:10,782,064...10,794,163

G

activating transcription factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814

G

ATPase Na+/K+ transporting subunit alpha 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604

G

ATPase Na+/K+ transporting subunit beta 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947

G

ATPase plasma membrane Ca2+ transporting 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:321,246...420,262
Ensembl chr38:366,656...416,952

G

ATPase H+ transporting V1 subunit G3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:4,368,476...4,388,544
Ensembl chr 7:4,368,418...4,388,539

G

ATPase phospholipid transporting 8B2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,940,219...42,959,964
Ensembl chr 7:42,941,753...42,964,026

G

arginine vasopressin receptor 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,440,574...2,446,037
Ensembl chr38:2,440,615...2,446,037

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823

G

beta-1,3-N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903

G

beta-1,3-galactosyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:5,868,822...5,876,539
Ensembl chr38:5,874,011...5,875,279

G

beta-1,4-galactosyltransferase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,301,835...21,306,854
Ensembl chr38:21,302,003...21,312,958

G

B9 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:40,854,110...40,866,828
Ensembl chr 5:40,854,127...40,866,824

G

BAG cochaperone 6

disease_progression

NCBI chr12:1,126,730...1,141,978
Ensembl chr12:1,126,732...1,137,896

G

basic leucine zipper ATF-like transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,843,859...10,854,269
Ensembl chr 7:10,843,850...10,857,847

G

brevican

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178

G

BCL9 transcription coactivator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,105,914...58,189,065
Ensembl chr17:58,168,375...58,189,062

G

bone gamma-carboxyglutamate protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791

G

basic leucine zipper nuclear factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:29,182,098...29,205,909
Ensembl chr 7:29,183,132...29,206,040

G

BCL2 interacting protein like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,126,341...60,135,209
Ensembl chr17:60,126,745...60,134,605

G

BOC cell adhesion associated, oncogene regulated

CTD Direct Evidence: marker/mechanism

NCBI chr33:17,508,046...17,629,705
Ensembl chr33:17,556,910...17,630,259

G

bolA family member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,182,085...59,183,035
Ensembl chr17:59,182,555...59,182,968

G

3'(2'), 5'-bisphosphate nucleotidase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:14,834,642...14,857,242
Ensembl chr38:14,834,643...14,857,227

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma
ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

BMP/retinoic acid inducible neural specific 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:22,332,465...22,449,295
Ensembl chr 7:22,339,056...22,448,854

G

BMP/retinoic acid inducible neural specific 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:8,181,227...8,558,518
Ensembl chr38:8,205,916...8,558,482

G

BRO1 domain and CAAX motif containing

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:16,971,449...16,990,673
Ensembl chr38:16,971,504...16,990,372

G

BTG anti-proliferation factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:70,921...75,149
Ensembl chr38:70,452...72,976

G

chromosome 14 C1orf35 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:832,005...833,681
Ensembl chr14:831,997...833,670

G

chromosome 17 C1orf54 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,514,661...59,522,685
Ensembl chr17:59,516,519...59,523,562

G

chromosome 17 C1orf56 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,135,343...60,137,489
Ensembl chr17:60,135,463...60,136,527

G

C2 domain containing 3 centriole elongation regulator

CTD Direct Evidence: marker/mechanism

NCBI chr21:24,127,390...24,272,473
Ensembl chr21:24,127,598...24,272,657

G

C2 calcium dependent domain containing 4D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

complement component 4 binding protein alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,239,036...6,268,934
Ensembl chr 7:6,241,102...6,268,910

G

complement component 4 binding protein beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,224,962...6,236,925
Ensembl chr 7:6,225,188...6,236,918

G

chromosome 4 C1orf131 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,189,749...8,204,428
Ensembl chr 4:8,189,741...8,204,433

G

chromosome 4 C1orf198 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,531,219...8,564,929
Ensembl chr 4:8,531,001...8,564,910

G

chromosome 7 C1orf105 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:26,490,012...26,561,542

G

chromosome 7 C1orf116 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,160,652...6,172,699
Ensembl chr 7:6,161,474...6,171,451

G

chromosome 7 C1orf21 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:17,710,731...17,851,232
Ensembl chr 7:17,710,824...17,848,929

G

chromosome 7 C1orf43 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,015,099...43,033,989
Ensembl chr 7:43,015,268...43,033,974

G

chromosome 7 C1orf53 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:4,906,349...4,911,504
Ensembl chr 7:4,906,336...4,911,746

G

chromosome 7 C1orf74 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,440,771...8,446,650
Ensembl chr 7:8,444,907...8,446,604

G

carbonic anhydrase 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,504,181...59,510,497
Ensembl chr17:59,504,483...59,510,127

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:14,892,165...15,267,418
Ensembl chr 7:14,707,801...15,267,422

G

calcium voltage-gated channel subunit alpha1 S

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,108,716...2,172,246
Ensembl chr 7:2,108,455...2,303,220

G

calcyclin binding protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:24,372,599...24,384,084
Ensembl chr 7:24,372,596...24,383,926

G

cell adhesion molecule 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,765,479...22,782,162
Ensembl chr38:22,766,698...22,797,072

G

calcium/calmodulin dependent protein kinase IG

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,240,752...8,271,116
Ensembl chr 7:8,240,093...8,271,071

G

calmodulin regulated spectrin associated protein family member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,317,986...2,432,421
Ensembl chr 7:2,320,220...2,432,603

G

calpain 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,333,379...40,367,158
Ensembl chr 7:40,334,012...40,377,037

G

calpain 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,408,408...40,451,843
Ensembl chr 7:40,408,141...40,452,068

G

calpain 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,613,222...8,653,534
Ensembl chr 4:8,612,682...8,653,467

G

calsequestrin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,012,060...22,020,430
Ensembl chr38:22,011,060...22,020,383

G

catsper channel auxiliary subunit epsilon

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:35,477,118...35,675,981
Ensembl chr 7:35,477,670...35,674,702

G

coiled-coil and C2 domain containing 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547

G

coiled-coil domain containing 181

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:29,136,183...29,173,753
Ensembl chr 7:29,141,746...29,173,753

G

coiled-coil domain containing 185

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,632,411...23,634,118