Connective 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 Tissue Neoplasms	go back to main search page
Accession:	DOID:9003944	browse the term
Definition:	Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.
Synonyms:	exact_synonym:	connective tissue neoplasm; neoplasm of connective tissues; tumour of connective tissue
	primary_id:	MESH:D009372

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Rat (1837) Mouse (1956) Human (27456) Chinchilla (1584) Bonobo (1735) Dog (1875) Squirrel (1606) Pig (1700) Green Monkey (1690) Naked Mole-rat (1565) All
Genes (1710) Cell Lines (165)

Abdominal Fibromatosis

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RGD Reference(s)

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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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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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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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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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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

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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

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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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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

anaplastic astrocytoma

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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

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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

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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

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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

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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

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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

astroblastoma

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microRNA mir-542

disease_progression

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

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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

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

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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

bone giant cell tumor

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:brain (human)

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

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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

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caspase 3

treatment

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

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Fas associated via death domain

treatment

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

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Fas cell surface death receptor

treatment

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

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Fas ligand

treatment

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

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forkhead box A1

disease_progression

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

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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

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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

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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

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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

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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

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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

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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

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platelet derived growth factor receptor alpha

severity

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

breast fibroadenoma

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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

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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

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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

Carney complex

term browser

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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:28492532

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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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:8981950 PMID:9521425 PMID:10679937 PMID:11170095 PMID:11391482 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

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

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

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

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

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

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/nodular medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

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

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

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:29684080 PMID:31882575

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

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

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 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 protein 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

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

gastrointestinal stromal tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

ADP ribosylation factor 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

ADP ribosylation factor like GTPase 8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

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, somatic

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

G

coiled-coil domain containing 190

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:19,942,575...19,953,744
Ensembl chr38:19,942,089...19,950,955

G

centriole, cilia and spindle associated protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:9,878,171...9,896,962
Ensembl chr 4:9,878,186...9,893,572

G

chaperonin containing TCP1 subunit 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,566,274...41,583,903
Ensembl chr 7:41,566,292...41,584,863

G

CD160 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,548,137...58,564,077
Ensembl chr17:58,555,851...58,563,341

G

CD1a6 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,346,688...23,385,535

G

CD1b molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,316,203...23,319,767

G

CD1c molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,328,183...23,331,270
Ensembl chr38:23,295,128...23,331,613

G

CD1d molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,489,169...23,491,712

G

CD1e molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,295,037...23,298,004

G

CD244 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,495,649...21,522,656
Ensembl chr38:21,495,720...21,517,043

G

CD247 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,961,169...30,972,143

G

CD34 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,734,363...6,747,991
Ensembl chr 7:6,734,363...6,748,581

G

CD3 epsilon subunit of T-cell receptor complex

CTD Direct Evidence: marker/mechanism

NCBI chr 5:15,403,724...15,415,259
Ensembl chr 5:15,403,710...15,415,260

G

CD48 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,612,401...21,628,223
Ensembl chr38:21,566,748...21,628,219

G

CD55 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226

G

CD5 molecule like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,516,190...40,526,528
Ensembl chr 7:40,516,190...40,526,528

G

CD84 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,702,788...21,727,373
Ensembl chr38:21,702,494...21,759,668

G

CDC42 binding protein kinase alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:37,775,133...38,084,136
Ensembl chr 7:37,775,127...38,081,733

G

CDC42 small effector 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,138,497...60,146,344
Ensembl chr17:60,140,632...60,155,099

G

cell division cycle 73

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

G

cyclin dependent kinase 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,978,128...2,005,319
Ensembl chr38:1,990,061...2,002,321

G

cell adhesion associated, oncogene regulated

CTD Direct Evidence: marker/mechanism

NCBI chr 5:8,439,606...8,536,088
Ensembl chr 5:8,446,346...8,533,426

G

CUGBP Elav-like family member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,733,148...60,747,553
Ensembl chr17:60,735,628...60,746,615

G

centromere protein F

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:12,558,455...12,618,637
Ensembl chr 7:12,555,143...12,617,996

G

centromere protein L

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,406,881...25,430,084
Ensembl chr 7:25,407,183...25,423,219

G

centrosomal protein 170

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:34,264,994...34,395,355
Ensembl chr 7:34,266,147...34,364,497

G

centrosomal protein 350

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:13,552,784...13,677,410
Ensembl chr 7:13,552,815...13,673,716

G

ceramide synthase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,069,723...60,073,622
Ensembl chr17:60,070,585...60,081,502

G

cilia and flagella associated protein 126

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,158,212...21,176,889
Ensembl chr38:21,158,108...21,161,261

G

cilia and flagella associated protein 45

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,245,879...22,269,363
Ensembl chr38:22,254,472...22,269,322

G

complement factor H

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,878,677...2,956,226

G

complement factor H related 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:5,723,819...5,752,881
Ensembl chr 7:5,724,129...5,752,816

G

cingulin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,553,423...60,578,804
Ensembl chr17:60,559,116...60,578,705

G

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048

G

chitinase 3 like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

G

CHM like Rab escort protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:33,027,051...33,040,711

G

cholinergic receptor muscarinic 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:504,663...999,550
Ensembl chr 4:506,990...520,613

G

cholinergic receptor nicotinic beta 2 subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722

G

chromatin target of PRMT1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,418,902...43,428,012
Ensembl chr 7:43,419,707...43,427,856

G

circadian associated repressor of transcription

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,524,715...59,529,535
Ensembl chr17:59,525,987...59,529,402

G

CDC28 protein kinase regulatory subunit 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,496,912...42,499,907
Ensembl chr 7:42,496,912...42,499,875

G

CDC like kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,284,869...42,294,434
Ensembl chr 7:42,284,699...42,294,394

G

cornichon family AMPA receptor auxiliary protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:39,754,148...39,846,436
Ensembl chr 7:39,755,782...39,847,158

G

cornichon family AMPA receptor auxiliary protein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,010,412...40,022,425
Ensembl chr 7:40,010,425...40,022,347

G

consortin, connexin sorting protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:37,278,479...37,400,847
Ensembl chr 7:37,328,609...37,399,390

G

contactin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,570,598...1,600,524
Ensembl chr38:1,576,898...1,596,621

G

cytochrome c oxidase assembly factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:5,447,252...5,454,500
Ensembl chr 4:5,447,249...5,454,456

G

component of oligomeric golgi complex 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

collagen beta(1-O)galactosyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:17,242,951...17,342,562
Ensembl chr 7:17,245,555...17,343,067

G

COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:23,320,483...23,565,093
Ensembl chr 7:23,277,209...23,563,397

G

COPI coat complex subunit alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,892,995...21,936,076
Ensembl chr38:21,892,993...21,936,458

G

coenzyme Q8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,085,441...38,123,037
Ensembl chr 7:38,085,885...38,122,974

G

cytochrome c oxidase assembly factor COX20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:35,819,647...35,823,983
Ensembl chr 7:35,821,040...35,823,862

G

cellular retinoic acid binding protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,277,580...41,282,158
Ensembl chr 7:41,277,644...41,281,833

G

crumbs cell polarity complex component 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470

G

cAMP responsive element binding protein 3 like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,161,814...43,166,149
Ensembl chr 7:43,161,816...43,165,641

G

cellular repressor of E1A stimulated genes 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,873,556...30,884,257
Ensembl chr 7:30,873,556...30,883,370

G

cornulin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,380,706...61,386,294
Ensembl chr17:61,380,706...61,386,504

G

C-reactive protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

CREB regulated transcription coactivator 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,175,349...43,184,242
Ensembl chr 7:43,175,349...43,184,244

G

colony stimulating factor 1 receptor

DNA:mutation:exon 9: (human)

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

G

cysteine and glycine rich protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,400,650...1,421,918
Ensembl chr 7:1,397,912...1,421,007

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091

G

cathepsin E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,368,711...2,380,554
Ensembl chr38:2,369,265...2,380,459

G

cathepsin K

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507

G

cathepsin S

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849

G

cytochrome b5 reductase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:232,280...237,496
Ensembl chr 7:232,098...237,031

G

death associated protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894

G

aspartyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947

G

DDB1 and CUL4 associated factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,413,441...30,544,421
Ensembl chr 7:30,413,553...30,544,260

G

DDB1 and CUL4 associated factor 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,959,228...22,001,388
Ensembl chr38:21,959,254...21,999,677

G

DC-STAMP domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,443,787...42,457,361
Ensembl chr 7:42,428,113...42,457,062

G

DC-STAMP domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,457,294...42,466,549
Ensembl chr 7:42,457,366...42,466,374

G

discoidin domain receptor tyrosine kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

G

DEAD-box helicase 59

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,448,991...2,530,076
Ensembl chr 7:2,501,195...2,530,069

G

death effector domain containing

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,341,101...21,351,665
Ensembl chr38:21,342,534...21,351,972

G

delta 4-desaturase, sphingolipid 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,147,293...40,152,190
Ensembl chr 7:40,147,505...40,153,085

G

DENN domain containing 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:5,008,249...5,267,392
Ensembl chr 7:4,999,430...5,262,630

G

DENN domain containing 4B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,185,637...43,198,309
Ensembl chr 7:43,185,550...43,198,577

G

desumoylating isopeptidase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:35,688,519...35,734,283
Ensembl chr 7:35,687,888...35,731,186

G

dihydrofolate reductase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:25227144 PMID:28492532

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

G

DExH-box helicase 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,233,763...16,292,576
Ensembl chr 7:16,233,814...16,292,618

G

DISC1 scaffold protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:7,524,336...7,825,143
Ensembl chr 4:7,524,397...7,822,558

G

dispatched RND transporter family member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,716,436...23,871,497
Ensembl chr38:23,711,780...23,871,846

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

dynein axonemal heavy chain 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:39,310,580...39,648,017
Ensembl chr 7:39,310,585...39,641,151

G

dynamin 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:26,569,708...27,024,939
Ensembl chr 7:26,574,453...27,024,759

G

dolichyl-phosphate mannosyltransferase subunit 3, regulatory

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,368,898...42,369,686

G

dermatopontin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:29,830,415...29,855,479
Ensembl chr 7:29,830,415...29,857,061

G

dual serine/threonine and tyrosine protein kinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,669,721...1,716,407
Ensembl chr38:1,669,726...1,716,254

G

denticleless E3 ubiquitin protein ligase homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,323,842...10,368,529
Ensembl chr 7:10,323,559...10,369,560

G

dual specificity phosphatase 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:16,196,354...16,233,640
Ensembl chr38:16,196,635...16,231,315

G

dual specificity phosphatase 12

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,912,543...20,921,137
Ensembl chr38:20,912,546...20,921,125

G

dual specificity phosphatase 23

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,341,052...22,344,861

G

dual specificity tyrosine phosphorylation regulated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:9,982,245...9,994,327
Ensembl chr10:9,980,080...9,991,934

G

dual specificity tyrosine phosphorylation regulated kinase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:5,816,839...5,826,194
Ensembl chr 7:5,814,201...5,902,220

G

extracellular matrix protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744

G

EDAR associated death domain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789

G

ER degradation enhancing alpha-mannosidase like protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:17,918,902...17,991,270
Ensembl chr 7:17,922,334...17,991,596

G

EF-hand calcium binding domain 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:35,917,156...36,038,825
Ensembl chr 7:35,949,240...36,038,821

G

ephrin A1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,373,197...42,381,161
Ensembl chr 7:42,373,639...42,378,946

G

ephrin A3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,409,215...42,417,701
Ensembl chr 7:42,410,119...42,417,599

G

ephrin A4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,427,539...42,431,788
Ensembl chr 7:42,428,113...42,443,429

G

egl-9 family hypoxia inducible factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,053,486...8,110,791
Ensembl chr 4:8,053,837...8,109,325

G

eukaryotic translation initiation factor 2D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,851,972...2,871,574
Ensembl chr38:2,851,978...2,871,518

G

E74 like ETS transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:959,408...965,533
Ensembl chr 7:859,585...963,788

G

ETS transcription factor ELK4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,069,829...2,085,381
Ensembl chr38:2,078,008...2,125,069

G

elongator acetyltransferase complex subunit 4

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005

G

ENAH actin regulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:39,105,024...39,250,126
Ensembl chr 7:39,105,039...39,247,595

G

endosulfine alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,800,822...59,807,884
Ensembl chr17:59,801,306...59,807,869

G

endosomal transmembrane epsin interactor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,299,568...42,305,177
Ensembl chr 7:42,300,009...42,372,615

G

epoxide hydrolase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238

G

glutamyl-prolyl-tRNA synthetase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621

G

endoplasmic reticulum oxidoreductase 1 beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:3,710,138...3,818,232
Ensembl chr 4:3,758,122...3,817,703

G

estrogen related receptor gamma

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:11,825,055...12,439,143
Ensembl chr38:11,823,520...12,256,028

G

ethanolamine kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:722,479...740,404
Ensembl chr38:725,200...736,851

G

ETS variant transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,954,104...40,968,544
Ensembl chr 7:40,956,024...40,966,190

G

ETS variant transcription factor 3 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,986,870...40,991,742
Ensembl chr 7:40,980,558...40,991,739

G

exonuclease 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:33,237,124...33,268,835
Ensembl chr 7:33,237,593...33,268,254

G

exocyst complex component 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,133,526...8,138,185
Ensembl chr 4:8,133,670...8,135,853

G

F11 receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,433,819...21,456,722
Ensembl chr38:21,451,952...21,454,959

G

coagulation factor XIII B chain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:5,674,458...5,700,928
Ensembl chr 7:5,674,416...5,700,905

G

coagulation factor V

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296

G

family with sequence similarity 163 member A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,148,593...20,224,752
Ensembl chr 7:20,148,588...20,153,443

G

family with sequence similarity 177 member B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:16,995,745...17,031,004
Ensembl chr38:17,001,892...17,005,401

G

FAM20B glycosaminoglycan xylosylkinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,753,959...20,794,538
Ensembl chr 7:20,757,145...20,794,538

G

family with sequence similarity 72 member A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,495,180...2,505,313

G

family with sequence similarity 78 member B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:17,292,444...17,368,328
Ensembl chr38:17,292,327...17,378,403

G

family with sequence similarity 89 member A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,378,406...8,398,472

G

Fas ligand

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

G

F-box protein 28

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,168,914...40,202,545
Ensembl chr 7:40,172,641...40,202,722

G

Fc alpha and mu receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,096,889...6,110,403
Ensembl chr 7:6,097,349...6,110,019

G

Fc epsilon receptor Ia

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,683,478...22,688,842
Ensembl chr38:22,683,477...22,690,763

G

Fc epsilon receptor Ig

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,267,841...21,271,036
Ensembl chr38:21,268,001...21,270,940

G

Fc fragment of IgG receptor Ia

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,073,139...59,102,023
Ensembl chr17:59,092,933...59,102,015

G

Fc fragment of IgG receptor IIb

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,980,777...20,994,403

G

Fc mu receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,046,270...6,064,063
Ensembl chr 7:6,048,814...6,064,013

G

Fc receptor like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,535,815...40,549,192
Ensembl chr 7:40,535,818...40,549,198

G

Fc receptor like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,556,068...40,573,386
Ensembl chr 7:40,555,436...40,574,240

G

Fc receptor like 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,599,319...40,625,939

G

Fc receptor like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,644,899...40,670,549
Ensembl chr 7:40,644,234...40,678,326

G

Fc receptor like 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,685,554...40,719,195
Ensembl chr 7:40,696,448...40,716,314

G

Fc receptor like 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,311,454...22,320,105

G

Fc receptor like A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,955,955...20,962,646
Ensembl chr38:20,955,944...20,962,646

G

Fc receptor like B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,943,351...20,950,836

G

farnesyl diphosphate synthase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225

G

fumarate hydratase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412

G

FIGNL1 interacting regulator of recombination and mitosis

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,792,037...28,835,647
Ensembl chr 7:28,796,078...28,835,564

G

flavin adenine dinucleotide synthetase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471

G

filaggrin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,217,915...61,233,068

G

fms related receptor tyrosine kinase 3

mRNA:decreased expression:gastrointestinal system smooth muscle (human)

NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284

G

FLVCR choline and heme transporter 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:11,001,155...11,038,910
Ensembl chr 7:11,001,101...11,035,980

G

formin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:31,657,371...32,024,777
Ensembl chr 7:31,697,245...32,023,472

G

flavin containing dimethylaniline monoxygenase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:27,599,230...27,623,081
Ensembl chr 7:27,599,267...27,618,237

G

flavin containing dimethylaniline monoxygenase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:27,634,624...27,659,111
Ensembl chr 7:27,634,900...27,659,037

G

flavin containing dimethylaniline monoxygenase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:27,720,420...27,745,522
Ensembl chr 7:27,720,420...27,845,626

G

flavin containing dimethylaniline monoxygenase 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:27,529,034...27,596,467
Ensembl chr 7:27,568,438...27,596,350

G

flavin containing dimethylaniline monoxygenase 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:57,665,879...57,698,540
Ensembl chr17:57,666,762...57,697,982

G

fibromodulin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:102,106...112,267
Ensembl chr38:103,230...112,154

G

forkhead box F1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935

G

G0/G1 switch 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,335,699...8,336,615
Ensembl chr 7:8,336,015...8,336,302

G

GA binding protein transcription factor subunit beta 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,154,346...60,183,839
Ensembl chr17:60,155,407...60,183,716

G

polypeptide N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:9,055,753...9,243,741
Ensembl chr 4:8,977,509...9,281,048

G

golgi associated RAB2 interactor family member 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,799,790...10,801,939
Ensembl chr 7:10,800,176...10,801,828

G

GATA zinc finger domain containing 2B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,201,307...43,295,868
Ensembl chr 7:43,254,305...43,294,211

G

glucosylceramidase beta 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864

G

germinal center associated signaling and motility like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:514,775...549,584
Ensembl chr 8:514,659...549,427

G

geranylgeranyl diphosphate synthase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315

G

gap junction protein alpha 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,360,313...58,428,751
Ensembl chr17:58,424,072...58,425,391

G

gap junction protein gamma 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:810,388...819,248
Ensembl chr14:810,386...820,420

G

GLI family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982

G

GLI family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658

G

GLI family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132

G

GLIS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:37,048,380...37,069,740
Ensembl chr 6:37,048,367...37,088,880

G

glycosylated lysosomal membrane protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,588,024...41,590,857
Ensembl chr 7:41,588,075...41,590,555

G

glutaredoxin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:5,963,800...5,971,673
Ensembl chr38:5,964,039...5,971,676

G

glutamate-ammonia ligase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241

G

G protein subunit gamma 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:4,308,892...4,389,812
Ensembl chr 4:4,354,050...4,387,191

G

glyceronephosphate O-acyltransferase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,155,186...8,190,403
Ensembl chr 4:8,155,191...8,190,229

G

golgi phosphoprotein 3 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,819,152...59,859,650
Ensembl chr17:59,819,157...59,859,602

G

golgi transport 1A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:774,454...790,899
Ensembl chr38:774,454...789,655

G

golgin, RAB6 interacting

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,220,679...28,241,035
Ensembl chr 7:28,221,064...28,241,012

G

glycoprotein A33

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:31,277,223...31,324,264
Ensembl chr 7:31,272,250...31,322,647

G

G-patch domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:12,682,263...12,850,587
Ensembl chr38:12,685,619...12,850,529

G

G-patch domain containing 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,359,986...41,367,085
Ensembl chr 7:41,360,575...41,366,665

G

G protein-coupled receptor 137B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:3,819,338...3,864,690
Ensembl chr 4:3,825,602...3,864,780

G

G protein-coupled receptor 161

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,364,999...30,411,038
Ensembl chr 7:30,366,068...30,407,268

G

G protein-coupled receptor 25

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,303,398...2,305,999
Ensembl chr 7:2,304,913...2,305,986

G

G protein-coupled receptor 37 like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:882,672...887,679
Ensembl chr 7:883,279...887,811

G

G protein-coupled receptor 52

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:24,858,588...24,862,982
Ensembl chr 7:24,860,473...24,862,117

G

G protein-coupled receptor 89A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,436,920...58,498,082

G

gremlin 2, DAN family BMP antagonist

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:32,048,151...32,157,698
Ensembl chr 7:32,048,183...32,157,146

G

guanylate kinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:820,048...826,694
Ensembl chr14:820,093...827,250

G

H2A clustered histone 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,146,999...59,147,691
Ensembl chr17:59,147,111...59,147,503

G

H2A clustered histone 20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,175,488...59,176,178

G

H2A clustered histone 21

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,176,217...59,176,960
Ensembl chr17:59,176,251...59,176,643

G

H2A clustered histone 25

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:604,444...605,584
Ensembl chr14:604,505...604,897

G

H2B clustered histone 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,120,297...59,121,083

G

H2B clustered histone 20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,156,148...59,156,809
Ensembl chr17:59,156,280...59,156,660

G

H2B clustered histone 26

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:603,716...604,222
Ensembl chr14:603,816...604,196

G

H3.3 histone A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

G

H3.4 histone, cluster member

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:627,178...627,587
Ensembl chr14:627,190...627,581

G

H3 clustered histone 13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,121,020...59,129,410
Ensembl chr17:59,121,976...59,122,386

G

H3 clustered histone 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,145,128...59,146,186
Ensembl chr17:59,145,650...59,146,057

G

hyaluronan and proteoglycan link protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,340,493...41,346,607
Ensembl chr 7:41,341,883...41,344,117

G

HCLS1 associated protein X-1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710

G

hyperpolarization activated cyclic nucleotide gated potassium channel 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595

G

heparin binding growth factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,244,740...41,247,919
Ensembl chr 7:41,238,175...41,247,921

G

HEAT repeat containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:3,501,191...3,547,212
Ensembl chr 4:3,501,571...3,547,100

G

hedgehog acyltransferase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,949,743...9,244,746
Ensembl chr 7:8,949,743...9,275,101

G

hedgehog interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr15:43,432,464...43,525,973
Ensembl chr15:43,431,650...43,520,861

G

HHIP like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:16,791,695...16,818,482
Ensembl chr38:16,791,695...16,818,411

G

homeodomain interacting protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,732,079...51,783,534
Ensembl chr17:51,732,016...51,781,063

G

homeodomain interacting protein kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:9,066,957...9,256,916
Ensembl chr16:9,066,970...9,244,526

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,792,647...58,797,504
Ensembl chr17:58,793,247...58,797,373

G

H2.0 like homeobox

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:15,538,744...15,543,686
Ensembl chr38:15,539,029...15,542,152

G

hemicentin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:18,798,802...19,254,847
Ensembl chr 7:18,798,796...19,253,786

G

heterogeneous nuclear ribonucleoprotein U

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:35,832,956...35,842,898
Ensembl chr 7:35,833,988...35,843,754

G

HORMA domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,860,527...59,883,031
Ensembl chr17:59,860,934...59,882,980

G

hydroxysteroid 11-beta dehydrogenase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897

G

hydroxysteroid 17-beta dehydrogenase 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010

G

isoleucyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635

G

iron-sulfur cluster assembly factor IBA57

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:799,540...804,191
Ensembl chr14:800,294...801,811

G

immediate early response 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:14,554,184...14,557,929
Ensembl chr 7:14,555,992...14,556,930

G

intraflagellar transport 172

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,389,462...21,426,970
Ensembl chr17:21,389,482...21,426,796

G

intraflagellar transport 52

CTD Direct Evidence: marker/mechanism

NCBI chr24:31,295,987...31,334,825
Ensembl chr24:31,296,015...31,334,808

G

intraflagellar transport 88

CTD Direct Evidence: marker/mechanism

NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266

G

immunoglobulin like and fibronectin type III domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,462,093...1,490,330

G

immunoglobulin superfamily member 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,093,463...22,100,009
Ensembl chr38:22,062,591...22,100,020

G

immunoglobulin superfamily member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,207,323...22,222,832
Ensembl chr38:22,206,660...22,222,823

G

Indian hedgehog signaling molecule

CTD Direct Evidence: marker/mechanism

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

G

inhibitor of nuclear factor kappa B kinase subunit epsilon

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,747,303...2,772,574
Ensembl chr38:2,747,297...2,772,587

G

interleukin 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 19

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870

G

interleukin 20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,019,879...6,022,707
Ensembl chr 7:6,019,442...6,023,219

G

interleukin 24

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,043,249...6,047,097
Ensembl chr 7:6,041,625...6,047,097

G

interleukin 6 receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090

G

immunoglobulin like domain containing receptor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:31,409,015...31,469,741
Ensembl chr 7:31,408,814...31,464,943

G

interleukin enhancer binding factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,403,136...43,410,378
Ensembl chr 7:43,403,222...43,410,375

G

innate immunity activator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,264,120...2,284,196

G

insulin receptor related receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940

G

integrator complex subunit 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,325,522...43,361,669
Ensembl chr 7:43,326,315...43,361,362

G

integrator complex subunit 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,238,809...10,323,699
Ensembl chr 7:10,239,711...10,323,611

G

importin 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,076,628...1,131,579
Ensembl chr 7:1,077,212...1,109,988

G

IQ motif containing GTPase activating protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,384,539...41,420,529
Ensembl chr 7:41,382,994...41,419,742

G

interferon regulatory factor 2 binding protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:5,242,225...5,249,371
Ensembl chr 4:5,244,869...5,247,247

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661

G

interferon stimulated exonuclease gene 20 like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,258,140...41,263,635
Ensembl chr 7:41,258,750...41,263,003

G

integrin subunit alpha 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,696,356...58,712,174
Ensembl chr17:58,697,392...58,711,794

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,253,257...38,346,400
Ensembl chr 7:38,253,407...38,343,345

G

involucrin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,714,470...61,716,961

G

influenza virus NS1A binding protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:18,430,970...18,444,573
Ensembl chr 7:18,431,553...18,444,573

G

jumonji domain containing 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:1,100,002...1,109,965
Ensembl chr14:1,105,283...1,109,960

G

jumping translocation breakpoint

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,159,164...43,161,907

G

potassium voltage-gated channel subfamily H member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:9,317,804...9,631,144
Ensembl chr 7:9,252,488...9,631,150

G

potassium inwardly rectifying channel subfamily J member 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813

G

potassium inwardly rectifying channel subfamily J member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,100,627...22,104,165
Ensembl chr38:22,100,621...22,104,167

G

potassium two pore domain channel subfamily K member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:6,117,406...6,139,390
Ensembl chr 4:6,118,373...6,122,093

G

potassium two pore domain channel subfamily K member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:12,893,654...13,092,319
Ensembl chr 7:12,894,149...13,090,110

G

potassium calcium-activated channel subfamily N member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,562,500...42,704,862
Ensembl chr 7:42,572,432...42,698,047

G

potassium sodium-activated channel subfamily T member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:3,006,639...3,382,234
Ensembl chr38:3,006,140...3,380,218

G

potassium channel tetramerization domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:11,016,344...11,059,843
Ensembl chr38:11,008,857...11,084,871

G

lysine demethylase 5B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

G

KH domain containing 4, pre-mRNA splicing factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,875,837...41,893,819
Ensembl chr 7:41,875,652...41,894,572

G

KIAA0040

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:24,201,130...24,235,716
Ensembl chr 7:24,235,021...24,235,323

G

KIAA1614

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:14,391,172...14,445,896
Ensembl chr 7:14,403,256...14,445,198

G

kinesin family member 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,548,407...2,602,371
Ensembl chr 7:2,548,258...2,601,581

G

kinesin family member 21B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,185,040...2,231,046
Ensembl chr 7:2,184,733...2,231,058

G

kinesin family member 26B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:36,087,483...36,529,334
Ensembl chr 7:36,088,050...36,522,653

G

kinesin family member 3A

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,988,516...21,044,151
Ensembl chr11:20,928,655...21,044,090

G

kinesin associated protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,581,855...28,739,327
Ensembl chr 7:28,593,425...28,739,272

G

kirre like nephrin family adhesion molecule 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,530,930...23,593,957
Ensembl chr38:23,530,885...23,594,236

G

KiSS-1 metastasis suppressor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:768,333...774,328
Ensembl chr38:768,585...773,382

G

KIT proto-oncogene, receptor tyrosine kinase

disease_progression

ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
Gastrointestinal stromal tumour
DNA:SNP: :rs17084733 (human)

OMIM
ClinVar
OMIA
RGD

PMID:1279971 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1720553 More...

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

G

kelch domain containing 8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,832,201...1,839,117
Ensembl chr38:1,833,591...1,839,399

G

kelch domain containing 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,367,825...21,370,347
Ensembl chr38:21,366,194...21,370,328

G

kelch like family member 12

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:256,814...284,132

G

kelch like family member 20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,430,490...25,484,245
Ensembl chr 7:25,430,745...25,484,311

G

kynurenine 3-monooxygenase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:32,941,487...32,994,541
Ensembl chr 7:32,941,487...32,994,541

G

KPRP N-terminal and LCE C-terminal like protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,541,989...61,543,947
Ensembl chr17:61,541,477...61,543,761

G

keratinocyte proline rich protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,544,787...61,575,610
Ensembl chr17:61,573,127...61,574,902

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma

PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:18316791 More...

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

G

keratinocyte associated protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,354,793...42,357,596
Ensembl chr 7:42,354,040...42,357,600

G

ladinin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,623,839...1,639,314
Ensembl chr 7:1,624,056...1,641,104

G

laminin subunit beta 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474

G

laminin subunit gamma 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,406,421...16,528,372
Ensembl chr 7:16,404,495...16,526,000

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085

G

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,760,632...41,764,926
Ensembl chr 7:41,760,638...41,763,299

G

lymphocyte transmembrane adaptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:429,062...438,069
Ensembl chr38:429,528...436,696

G

lamin B receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606

G

late cornified envelope 6A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,653,363...61,654,514

G

left-right determination factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,932,668...38,934,989

G

late cornified envelope like proline rich 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,927,443...61,929,285

G

LEM domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,872,196...1,898,493
Ensembl chr38:1,872,473...1,898,389

G

lens epithelial protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,487,902...42,488,901
Ensembl chr 7:42,488,363...42,488,548

G

galectin 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:3,548,066...3,581,382
Ensembl chr 4:3,533,200...3,567,311

G

leucine rich repeat containing G protein-coupled receptor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:731,934...837,092
Ensembl chr 7:731,931...834,893

G

LIM homeobox 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:13,779,574...13,825,650
Ensembl chr 7:13,779,774...13,821,317

G

LIM homeobox 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:4,881,134...4,897,136
Ensembl chr 7:4,881,627...4,896,011

G

lin-9 DREAM MuvB core complex component

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,571,890...38,647,354
Ensembl chr 7:38,575,012...38,647,481

G

leucine rich repeat and Ig domain containing 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,814,948...60,820,517
Ensembl chr17:60,815,499...60,817,448

G

limb and CNS expressed 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,729,143...58,747,869
Ensembl chr17:58,731,685...58,747,856

G

lamin A/C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931

G

leiomodin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,025,022...1,059,254

G

LIM homeobox transcription factor 1 alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049

G

neuroblastoma breakpoint family member 6-like protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,936,470...58,963,553

G

cornifin-A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,794,303...61,796,053

G

transmembrane epididymal protein 1-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:15,761,308...15,763,087

G

protein S100-A15A-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,503,226...43,537,485

G

torsin-1A-interacting protein 2-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:13,411,955...13,453,366
Ensembl chr 7:13,414,910...13,435,161

G

olfactory receptor 14C36

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,384,785...2,385,766

G

vomeronasal type-1 receptor 90

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:4,167,306...4,168,232

G

hornerin-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

zinc finger protein 596-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:37,275,514...37,308,518

G

low affinity immunoglobulin gamma Fc region receptor III

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,054,870...21,060,948

G

butyrophilin-like protein 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:496,333...510,770

G

olfactory receptor 2L13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,180,549...2,181,511

G

filaggrin-2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,311,558...61,323,059

G

peptidyl-prolyl cis-trans isomerase A-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr19:42,982,979...42,983,440

G

olfactory receptor 6K6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,004,360...23,004,839

G

myeloid cell nuclear differentiation antigen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,874,345...22,892,362

G

complement receptor type 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,456,238...6,480,672

G

lymphotactin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:29,986,433...29,991,096

G

left-right determination factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,893,456...38,898,741

G

GON-4-like protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,927,667...42,000,649

G

olfactory receptor 6K3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

CD46 molecule, complement regulatory protein-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,602,762...6,646,561

G

folate receptor alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr21:25,944,350...25,951,010

G

loricrin cornified envelope precursor protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,994,297...61,995,591

G

lysophosphatidylglycerol acyltransferase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,091,628...10,205,388
Ensembl chr 7:10,094,069...10,198,309

G

leucine rich repeat containing 52

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:17,755,380...17,776,296
Ensembl chr38:17,755,382...17,776,016

G

leucine rich repeat containing 71

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,099,563...41,110,148
Ensembl chr 7:41,098,718...41,110,157

G

leucine rich repeat neuronal 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,163,974...1,218,069
Ensembl chr38:1,164,664...1,166,802

G

lymphocyte antigen 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,522,898...21,554,652
Ensembl chr38:21,523,637...21,554,579

G

lysophospholipase like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:14,100,818...14,137,292
Ensembl chr38:14,100,698...14,268,481

G

LysM domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,222,628...60,230,967
Ensembl chr17:60,223,347...60,230,821

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:4,106,869...4,296,042
Ensembl chr 4:4,089,837...4,294,593

G

maelstrom spermatogenic transposon silencer

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:31,364,111...31,394,675
Ensembl chr 7:31,364,293...31,409,435

G

microtubule associated protein 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:6,867,323...6,870,177
Ensembl chr 4:6,867,326...6,870,063

G

microtubule associated protein 1 light chain 3 gamma

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:33,364,569...33,369,080
Ensembl chr 7:33,365,045...33,368,969

G

mitogen-activated protein kinase kinase kinase 21

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:6,339,146...6,391,333
Ensembl chr 4:6,341,540...6,391,364

G

MAPK activated protein kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:5,873,088...5,903,484
Ensembl chr 7:5,814,201...5,902,220

G

microtubule affinity regulating kinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:15,270,523...15,341,934
Ensembl chr38:15,273,004...15,340,448

G

MCL1 apoptosis regulator, BCL2 family member

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111

G

MDM4 regulator of p53

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166

G

myocyte enhancer factor 2D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,455,771...41,473,807
Ensembl chr 7:41,458,514...41,470,197

G

menin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340

G

methyltransferase 13, eEF1A N-terminus and K55

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:27,159,425...27,175,144

G

methyltransferase 18, RPL3 N3(tau)-histidine

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,835,753...28,838,512
Ensembl chr 7:28,837,350...28,838,447

G

methyltransferase like 25B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,251,838...41,258,130
Ensembl chr 7:41,245,628...41,257,937

G

mex-3 RNA binding family member A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,742,777...41,749,730
Ensembl chr 7:41,742,785...41,747,628

G

major facilitator superfamily domain containing 4A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,037,365...2,066,822
Ensembl chr38:2,037,026...2,064,696

G

microsomal glutathione S-transferase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:17,670,329...17,691,822
Ensembl chr38:17,668,752...17,718,704

G

MIA SH3 domain ER export factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:16,880,411...16,936,368
Ensembl chr38:16,879,740...16,935,844

G

MINDY lysine 48 deubiquitinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,092,245...60,103,797
Ensembl chr17:60,094,702...60,103,307

G

microRNA mir-181a-1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:4,055,465...4,055,526
Ensembl chr 7:4,055,465...4,055,526

G

microRNA mir-181d

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:48,593,158...48,593,221

G

microRNA mir-194

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:14,895,401...14,895,458
Ensembl chr38:14,895,401...14,895,458

G

microRNA mir-199-2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:26,812,766...26,812,824
Ensembl chr 7:26,812,735...26,812,838

G

microRNA mir-205

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,090,511...8,090,579
Ensembl chr 7:8,090,511...8,090,579

G

microRNA mir-214

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:26,818,559...26,818,668
Ensembl chr 7:26,818,559...26,818,670

G

microRNA mir-221

NCBI chr X:39,523,890...39,523,951
Ensembl chr X:39,523,885...39,523,954

G

microRNA mir-222

disease_progression

DNA:SNP: :rs75246947 (human)

PMID:21132270 PMID:30983504

RGD:151709005 RGD:151709007

NCBI chr X:39,524,519...39,524,608
Ensembl chr X:39,524,519...39,524,608

G

microRNA mir-29c-2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,651,339...6,651,396

G

Mix paired-like homeobox

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,651,481...38,652,560

G

MLLT11 transcription factor 7 cofactor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,142,411...60,153,650
Ensembl chr17:60,152,378...60,152,650

G

myeloid cell nuclear differentiation antigen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,921,729...22,934,276
Ensembl chr38:22,921,732...22,934,286

G

mitochondrial pyruvate carrier 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,544,986...30,574,102
Ensembl chr 7:30,545,152...30,574,080

G

myelin protein zero

ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic

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

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

G

myelin protein zero like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,670,506...30,741,464
Ensembl chr 7:30,672,840...30,741,484

G

major histocompatibility complex, class I-related

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:14,521,735...14,531,296

G

maestro heat like repeat family member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:27,799,722...27,898,885
Ensembl chr 7:27,800,009...27,898,869

G

mitochondrial ribosomal protein L24

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,248,851...41,251,878
Ensembl chr 7:41,249,992...41,251,879

G

mitochondrial ribosomal protein L55

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:826,731...830,107
Ensembl chr14:826,726...830,107

G

mitochondrial ribosomal protein L9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,782,975...60,787,313

G

mitochondrial ribosomal protein S14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:24,342,371...24,368,519

G

mitochondrial ribosomal protein S21

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,534,732...59,543,449
Ensembl chr17:59,534,859...59,543,027

G

mutS homolog 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:25227144 PMID:28492532

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

G

misato mitochondrial distribution and morphology regulator 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,000,141...42,003,941
Ensembl chr 7:42,000,092...42,003,891

G

mitochondrial amidoxime reducing component 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:15,460,548...15,490,941
Ensembl chr38:15,463,548...15,532,241

G

mitochondrial amidoxime reducing component 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:15,426,884...15,451,701
Ensembl chr38:15,426,666...15,451,136

G

methylenetetrahydrofolate reductase

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

PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More...

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

myotubularin related protein 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,214,794...59,223,953
Ensembl chr17:59,214,986...59,222,972

G

5-methyltetrahydrofolate-homocysteine methyltransferase

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

PMID:8968737 PMID:9013615 PMID:10323741 PMID:12154064 PMID:12375236 More...

NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

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

PMID:9501215 PMID:10444342 PMID:10500018 PMID:10930360 PMID:12375236 More...

NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312

G

metaxin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,322,755...42,327,918
Ensembl chr 7:42,322,762...42,328,701

G

mucin 1, cell surface associated

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690

G

myosin binding protein H

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:34,181...44,479
Ensembl chr 7:36,428...43,803

G

myocilin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:27,335,314...27,346,821
Ensembl chr 7:27,335,314...27,346,820

G

myogenin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:112,116...114,604
Ensembl chr 7:112,034...113,892

G

neuron navigator 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,134,208...1,305,204
Ensembl chr 7:1,140,824...1,304,213

G

NAD(P)HX epimerase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,367,248...41,369,733
Ensembl chr 7:41,367,275...41,369,862

G

neutrophil cytosolic factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,914,629...16,946,370
Ensembl chr 7:16,904,031...16,945,372

G

nicastrin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,878,071...21,891,362
Ensembl chr38:21,685,868...21,892,097

G

N-deacetylase and N-sulfotransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,580,231...58,639,750
Ensembl chr 4:58,532,148...58,640,191

G

NADH:ubiquinone oxidoreductase core subunit S2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279

G

nectin cell adhesion molecule 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,378,144...21,392,419
Ensembl chr38:21,375,556...21,392,632

G

NIMA related kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,039,617...10,052,511
Ensembl chr 7:10,040,187...10,052,512

G

NIMA related kinase 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:4,557,754...4,755,912
Ensembl chr 7:4,555,231...4,704,955

G

neudesin neurotrophic factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,614,803...10,624,555
Ensembl chr 7:10,623,041...10,781,965

G

nestin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736

G

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

DNA:loss of heterozygosity

NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196

G

neurofascin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,367,128...1,546,909
Ensembl chr38:1,366,251...1,543,630

G

nescient helix-loop-helix 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,867,603...21,868,942

G

niban apoptosis regulator 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:18,021,782...18,234,759
Ensembl chr 7:18,024,578...18,235,236

G

nidogen 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:3,935,218...4,018,133
Ensembl chr 4:3,935,223...4,017,300

G

nitrilase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,352,236...21,355,636
Ensembl chr38:21,348,486...21,356,260

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059

G

NME/NM23 family member 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:29,201,273...29,464,072
Ensembl chr 7:29,206,307...29,463,467

G

nicotinamide nucleotide adenylyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,626,213...16,819,681
Ensembl chr 7:16,631,116...16,805,457

G

nitric oxide synthase 1 adaptor protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,353,341...20,614,684

G

NPC intracellular cholesterol transporter 1

CTD Direct Evidence: marker/mechanism

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

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

G

N-acetylneuraminate pyruvate lyase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,186,693...16,226,658
Ensembl chr 7:16,192,005...16,224,033

G

natriuretic peptide receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027

G

nuclear receptor subfamily 1 group I member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,252,874...21,257,951
Ensembl chr38:21,253,089...21,258,827

G

nuclear receptor subfamily 5 group A member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,925,915...3,062,118
Ensembl chr 7:2,927,326...3,062,348

G

NSL1 component of MIS12 kinetochore complex

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,883,469...10,948,520
Ensembl chr 7:10,863,966...10,930,919

G

N-terminal Xaa-Pro-Lys N-methyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,520,322...28,543,846
Ensembl chr 7:28,524,761...28,544,379

G

nucleoside-triphosphatase, cancer-related

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:6,704,571...6,733,820

G

neurotrophic receptor tyrosine kinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288

G

NUAK family kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,797,899...1,816,087
Ensembl chr38:1,798,802...1,816,185

G

nuclear casein kinase and cyclin dependent kinase substrate 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,157,109...2,188,543
Ensembl chr38:2,160,233...2,170,560

G

nudix hydrolase 17

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,648,234...58,653,222
Ensembl chr17:58,648,272...58,650,757

G

NUF2 component of NDC80 kinetochore complex

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:19,574,122...19,599,821
Ensembl chr38:19,574,125...19,599,064

G

nucleoporin 133

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:9,751,902...9,805,796
Ensembl chr 4:9,751,986...9,805,033

G

nucleoporin 210 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,068,259...43,149,202
Ensembl chr 7:43,068,341...43,161,853

G

nuclear VCP like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,041,692...40,131,984
Ensembl chr 7:40,041,394...40,131,823

G

ornithine decarboxylase antizyme 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,789,541...60,792,954
Ensembl chr17:60,786,963...60,792,954

G

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:664,404...782,376

G

odr-4 GPCR localization factor homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:19,442,748...19,483,823
Ensembl chr 7:19,443,071...19,482,121

G

olfactomedin like 2B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,651,107...20,693,625
Ensembl chr38:20,658,158...20,693,250

G

opsin 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:32,995,047...33,040,873
Ensembl chr 7:32,996,938...33,040,876

G

opticin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:215,404...223,247
Ensembl chr38:215,404...223,247

G

olfactory receptor family 10 subfamily J member 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,471,969...22,473,711

G

olfactory receptor 10J5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,531,375...22,679,635
Ensembl chr38:22,531,375...22,678,591

G

olfactory receptor family 10 subfamily K member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,236,777...23,237,718
Ensembl chr38:23,236,777...23,237,718

G

olfactory receptor family 10 subfamily K member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,265,396...23,266,340
Ensembl chr38:23,265,396...23,266,340

G

olfactory receptor family 10 subfamily R member 3C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,205,171...23,206,244

G

olfactory receptor family 10 subfamily T member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,283,312...23,284,259
Ensembl chr38:23,283,312...23,284,259

G

olfactory receptor family 10 subfamily X member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,146,248...23,147,207

G

olfactory receptor family 10 subfamily Z member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280

G

olfactory receptor family 13 subfamily G member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:1,233,712...1,234,635
Ensembl chr14:1,233,712...1,234,635

G

olfactory receptor family 14 subfamily I member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,783,745...2,784,871
Ensembl chr14:2,783,888...2,784,823

G

olfactory receptor family 1 subfamily F member 15

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 6:9,908,092...9,914,090
Ensembl chr 6:9,908,101...9,909,006

G

olfactory receptor family 2 subfamily AK member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:1,297,220...1,298,185
Ensembl chr14:1,297,277...1,298,185

G

olfactory receptor family 2 subfamily B member 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:378,558...379,517
Ensembl chr 8:378,570...379,517

G

olfactory receptor family 2 subfamily C member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:469,044...470,131
Ensembl chr 8:469,169...470,131

G

olfactory receptor family 2 subfamily G member 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,848,252...2,857,573
Ensembl chr14:2,848,255...2,849,178

G

olfactory receptor family 2 subfamily L member 17

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:1,387,375...1,388,310
Ensembl chr14:1,387,375...1,388,310

G

olfactory receptor family 2 subfamily L member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,072,699...2,073,637
Ensembl chr14:2,072,699...2,073,637

G

olfactory receptor family 2 subfamily L member 3B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:1,341,098...1,342,036
Ensembl chr14:1,341,098...1,342,036

G

olfactory receptor family 2 subfamily L member 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,051,227...2,052,165
Ensembl chr14:2,051,227...2,052,165

G

olfactory receptor family 2 subfamily M member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,351,634...2,352,569
Ensembl chr14:2,351,636...2,352,640

G

olfactory receptor family 2 subfamily T member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,613,861...2,614,946
Ensembl chr14:2,613,990...2,614,946

G

olfactory receptor family 2 subfamily T member 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,695,311...2,696,273
Ensembl chr14:2,695,311...2,696,273

G

olfactory receptor family 2 subfamily T member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,663,502...2,664,476
Ensembl chr14:2,663,502...2,664,476

G

olfactory receptor family 2 subfamily T member 22

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,218,462...2,223,677
Ensembl chr14:2,222,431...2,223,375

G

olfactory receptor family 2 subfamily T member 27

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,650,695...2,651,648
Ensembl chr14:2,650,695...2,651,648

G

olfactory receptor family 2 subfamily T member 4B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,712,134...2,717,315
Ensembl chr14:2,712,149...2,713,096

G

olfactory receptor family 2 subfamily T member 4D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,763,585...2,764,547
Ensembl chr14:2,763,585...2,764,547

G

olfactory receptor family 2 subfamily T member 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:2,595,008...2,595,967
Ensembl chr14:2,595,008...2,595,934

G

olfactory receptor family 2 subfamily W member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:1,571,195...1,573,845
Ensembl chr14:1,572,128...1,573,072

G

olfactory receptor family 6 subfamily AA member 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:611,594...612,553
Ensembl chr 8:611,594...612,553

G

olfactory receptor family 6 subfamily F member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:1,184,208...1,185,134
Ensembl chr14:1,184,208...1,185,134

G

olfactory receptor family 6 subfamily K member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,042,900...23,045,240
Ensembl chr38:23,043,721...23,044,686

G

olfactory receptor family 6 subfamily N member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,993,596...22,994,546
Ensembl chr38:22,993,596...22,994,546

G

olfactory receptor family 6 subfamily N member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,982,050...22,983,003
Ensembl chr38:22,982,050...22,983,003

G

olfactory receptor family 6 subfamily P member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,158,144...23,159,100
Ensembl chr38:23,158,144...23,159,100

G

olfactory receptor family 6 subfamily Y member 1, pseudogene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,167,913...23,169,046
Ensembl chr38:23,168,069...23,169,046

G

OTU deubiquitinase 7B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,225,640...59,280,875
Ensembl chr17:59,229,362...59,280,934

G

proton activated chloride channel 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,568,030...10,606,672
Ensembl chr 7:10,568,026...10,610,578

G

peptidyl arginine deiminase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:16258955 PMID:19351833 PMID:23666964 PMID:28492532

NCBI chr 2:81,116,031...81,147,889
Ensembl chr 2:81,116,140...81,145,043

G

pappalysin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:22,769,594...23,038,458
Ensembl chr 7:22,772,715...23,036,517

G

progestin and adipoQ receptor family member 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383

G

poly(ADP-ribose) polymerase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127

G

PBX homeobox 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:18,378,997...18,703,694
Ensembl chr38:18,418,093...18,703,497

G

PBX homeobox interacting protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,514,306...42,524,056
Ensembl chr 7:42,514,423...42,523,585

G

pecanex 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:6,434,582...6,701,344
Ensembl chr 4:6,418,843...6,699,683

G

Purkinje cell protein 4 like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,221,334...21,242,578
Ensembl chr38:21,222,253...21,243,195

G

phosducin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:19,498,785...19,514,225
Ensembl chr 7:19,498,788...19,514,228

G

phosphodiesterase 4D interacting protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:57,135,716...57,359,348
Ensembl chr17:57,135,308...57,358,978

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor
ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial

PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:12660384 More...

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

G

PDZ domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,496,977...58,536,772

G

proliferation and apoptosis adaptor protein 15

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,001,702...22,004,728
Ensembl chr38:22,003,143...22,198,158

G

platelet endothelial aggregation receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,110,925...41,130,532
Ensembl chr 7:41,110,909...41,123,390

G

peroxisomal biogenesis factor 11 beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,713,304...58,718,795
Ensembl chr17:58,712,902...58,718,647

G

peroxisomal biogenesis factor 19

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,939,054...21,945,281
Ensembl chr38:21,939,018...21,944,602

G

prefoldin subunit 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,355,622...21,367,623
Ensembl chr38:21,355,678...21,367,619

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,193,519...6,220,034
Ensembl chr 7:6,196,656...6,218,397

G

piggyBac transposable element derived 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,989,542...9,025,836
Ensembl chr 4:8,989,430...9,046,954

G

pleckstrin homology like domain family A member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,438,539...1,440,701

G

phosphatidylinositol 4-kinase beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778

G

protein inhibitor of activated STAT 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,650,791...58,660,755
Ensembl chr17:58,571,694...58,660,663

G

phosphatidylinositol glycan anchor biosynthesis class C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417

G

phosphatidylinositol glycan anchor biosynthesis class M

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,150,006...22,151,589

G

polymeric immunoglobulin receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,070,407...6,087,605
Ensembl chr 7:6,070,407...6,087,605

G

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:974,248...1,016,226
Ensembl chr38:975,749...1,027,679

G

phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,257,017...60,295,866
Ensembl chr17:60,257,332...60,295,866

G

pyruvate kinase L/R

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755

G

plakophilin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,921,143...1,966,910
Ensembl chr 7:1,921,143...1,967,703

G

phospholipase A2 group IVA

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:19,804,412...19,955,215
Ensembl chr 7:19,832,664...19,966,936

G

phospholipase D family member 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:33,422,964...33,836,252
Ensembl chr 7:33,429,409...33,836,258

G

pleckstrin homology domain containing A6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:795,368...851,823
Ensembl chr38:799,918...838,835

G

pleckstrin homology domain containing O1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,402,758...59,411,906
Ensembl chr17:59,402,834...59,411,788

G

plexin A2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,863,518...7,049,301
Ensembl chr 7:6,863,663...7,049,250

G

peptidase M20 domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,247,645...2,270,286
Ensembl chr38:2,250,272...2,270,653

G

phosphomevalonate kinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625

G

pogo transposable element derived with KRAB domain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:31,531,633...31,546,694
Ensembl chr 7:31,532,831...31,547,283

G

pogo transposable element derived with ZNF domain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,464,609...60,511,735
Ensembl chr17:60,465,230...60,511,934

G

RNA polymerase III subunit C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,634,299...58,646,056
Ensembl chr17:58,636,244...58,645,838

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,751,942...58,764,946
Ensembl chr17:58,751,604...58,764,881

G

POU class 2 homeobox 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,975,303...31,162,288
Ensembl chr 7:30,986,181...31,162,246

G

PTPRF interacting protein alpha 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:118,795...164,937
Ensembl chr 7:120,908...164,964

G

protoporphyrinogen oxidase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,306,973...21,310,892
Ensembl chr38:21,306,974...21,311,012

G

protein phosphatase 1 regulatory subunit 12B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:512,692...713,848
Ensembl chr 7:512,575...713,709

G

protein phosphatase 1 regulatory subunit 15B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:957,320...965,683
Ensembl chr38:959,721...965,933

G

protein phosphatase 2 regulatory subunit B'alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,502,959...10,566,475
Ensembl chr 7:10,502,930...10,565,404

G

proline rich mitotic checkpoint control factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,200,398...41,225,494
Ensembl chr 7:41,200,411...41,226,186

G

peroxiredoxin 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,663,238...25,675,855
Ensembl chr 7:25,663,579...25,675,754

G

proline and arginine rich end leucine rich repeat protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:198,681...212,320
Ensembl chr38:198,583...209,937

G

proteoglycan 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:19,360,034...19,377,005
Ensembl chr 7:19,364,609...19,376,999

G

protein kinase AMP-activated non-catalytic subunit beta 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:57,614,499...57,630,041
Ensembl chr17:57,616,451...57,630,041

G

prospero homeobox 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:11,996,282...12,047,693
Ensembl chr 7:11,996,703...12,044,036

G

pre-mRNA processing factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,552,227...59,577,027
Ensembl chr17:59,552,340...59,577,009

G

proline rich 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,938,089...61,939,857
Ensembl chr17:61,938,737...61,939,063

G

proline rich coiled-coil 2C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:27,372,677...27,474,790
Ensembl chr 7:27,374,318...27,474,785

G

paired related homeobox 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,065,570...28,138,734
Ensembl chr 7:28,068,711...28,138,787

G

serine protease 38

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:997,712...1,007,499
Ensembl chr14:998,162...1,008,129

G

prune exopolyphosphatase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,104,724...60,125,899
Ensembl chr17:60,104,958...60,124,900

G

presenilin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,147,157...38,163,023
Ensembl chr 7:38,147,173...38,166,722

G

proteasome 20S subunit beta 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594

G

proteasome 26S subunit ubiquitin receptor, non-ATPase 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,306,134...60,313,610
Ensembl chr17:60,306,229...60,313,610

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

patched 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234

G

prostaglandin-endoperoxide synthase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine phosphatase non-receptor type 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:12,335,327...12,454,992
Ensembl chr 7:12,342,277...12,486,204

G

protein tyrosine phosphatase non-receptor type 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:859,124...869,168
Ensembl chr 7:859,214...869,183

G

protein tyrosine phosphatase receptor type C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:4,155,876...4,282,151
Ensembl chr 7:4,137,728...4,282,124

G

pyrroline-5-carboxylate reductase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,902,705...38,905,924

G

pygopus family PHD finger 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,509,760...42,513,744
Ensembl chr 7:42,509,968...42,512,091

G

quiescin sulfhydryl oxidase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:13,718,799...13,754,115
Ensembl chr 7:13,718,799...13,754,114

G

RAB13, member RAS oncogene family

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,152,903...43,156,720
Ensembl chr 7:43,153,002...43,156,720

G

RAB23, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,388,530...24,438,956
Ensembl chr12:24,387,643...24,421,869

G

RAB25, member RAS oncogene family

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,752,975...41,758,954
Ensembl chr 7:41,752,975...41,758,906

G

RAB29, member RAS oncogene family

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,196,618...2,204,150
Ensembl chr38:2,198,040...2,203,896

G

RAB3 GTPase activating non-catalytic protein subunit 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865

G

RAB4A, member RAS oncogene family

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:9,914,681...9,965,468
Ensembl chr 4:9,916,235...9,965,469

G

RAB GTPase activating protein 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:24,390,324...25,132,699
Ensembl chr 7:24,394,861...25,132,932

G

RAB interacting factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:286,660...295,383
Ensembl chr 7:286,672...293,750

G

Ral GEF with PH domain and SH3 binding motif 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,874,227...21,031,817
Ensembl chr 7:20,879,492...21,005,154

G

RAS protein activator like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:21,243,984...21,591,932
Ensembl chr 7:21,222,089...21,591,973

G

Ras association domain family member 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,783,049...2,849,188
Ensembl chr38:2,783,122...2,847,909

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

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

G

RB binding protein 5, histone lysine methyltransferase complex subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,606,751...1,646,444
Ensembl chr38:1,608,314...1,646,094

G

RNA binding motif protein 34

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:4,755,574...4,780,963
Ensembl chr 4:4,755,620...4,780,958

G

RNA binding motif protein 8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,722,449...58,726,017
Ensembl chr17:58,724,227...58,725,969

G

ring finger and CCCH-type domains 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,265,836...25,312,417
Ensembl chr 7:25,233,235...25,305,174

G

REST corepressor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:9,720,401...9,773,223
Ensembl chr 7:9,719,411...9,789,700

G

RCSD domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,756,524...30,852,309
Ensembl chr 7:30,756,645...30,852,818

G

RD3 regulator of GUCY2D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:9,876,003...9,887,267

G

renin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

regulatory factor X5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,393,773...60,400,150
Ensembl chr17:60,395,321...60,400,009

G

ral guanine nucleotide dissociation stimulator like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,986,304...17,236,549
Ensembl chr 7:17,041,296...17,235,193

G

regulator of G protein signaling 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:6,372,451...6,376,427
Ensembl chr38:6,372,558...6,376,315

G

regulator of G protein signaling 13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:6,291,146...6,316,662
Ensembl chr38:6,291,182...6,315,198

G

regulator of G protein signaling 16

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,009,283...16,015,228
Ensembl chr 7:16,009,271...16,015,597

G

regulator of G protein signaling 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:6,729,056...6,743,522
Ensembl chr38:6,730,328...6,743,396

G

regulator of G protein signaling 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:6,200,237...6,203,491
Ensembl chr38:6,200,657...6,203,494

G

regulator of G protein signaling 21

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:6,562,392...6,585,898
Ensembl chr38:6,562,409...6,585,898

G

regulator of G protein signaling 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:19,771,454...19,778,917
Ensembl chr38:19,771,441...19,779,190

G

regulator of G protein signaling 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:19,683,396...19,730,514
Ensembl chr38:19,683,485...19,725,778

G

regulator of G protein signaling 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:32,296,337...32,792,085
Ensembl chr 7:32,296,695...32,792,036

G

regulator of G protein signaling 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,053,946...16,081,661
Ensembl chr 7:16,053,946...16,080,388

G

regulator of G protein signaling like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:15,739,709...15,985,528
Ensembl chr 7:15,740,928...15,872,257

G

Rh family B glycoprotein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,532,266...41,548,523
Ensembl chr 7:41,538,214...41,566,057

G

regulator of hemoglobinization and erythroid cell expansion

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,416,825...2,434,203
Ensembl chr38:2,416,749...2,433,831

G

ras homolog family member U

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:10,395,033...10,406,239
Ensembl chr 4:10,396,111...10,406,244

G

regulatory subunit of type II PKA R-subunit domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,753,380...60,759,713
Ensembl chr17:60,753,092...60,759,733

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173

G

ribonuclease L

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569

G

ring finger protein 115

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,566,761...58,634,967
Ensembl chr17:58,571,694...58,660,663

G

ring finger protein 187

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

ring finger protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:18,240,672...18,283,091
Ensembl chr 7:18,236,115...18,281,387

G

arginyl aminopeptidase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:966,563...985,169
Ensembl chr 7:966,607...984,714

G

Ro60, Y RNA binding protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:5,975,824...6,004,327
Ensembl chr38:5,975,935...5,997,945

G

RAR related orphan receptor C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453

G

ribosomal protein L24

CTD Direct Evidence: marker/mechanism

NCBI chr33:8,018,183...8,023,779
Ensembl chr33:8,018,190...8,073,124

G

regulation of nuclear pre-mRNA domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,587,157...59,676,885
Ensembl chr17:59,587,157...59,672,964

G

ribosomal protein S27

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293

G

ribosomal protein S6 kinase C1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:11,152,316...11,329,244
Ensembl chr 7:11,152,328...11,329,244

G

repetin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,133,204...61,136,828
Ensembl chr17:61,133,204...61,136,844

G

ribosomal RNA processing 15 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:13,377,518...13,416,809
Ensembl chr38:13,377,571...13,421,810

G

RUN and SH3 domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,232,791...42,240,862
Ensembl chr 7:42,233,156...42,241,345

G

retinoid X receptor gamma

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:17,867,123...17,912,328
Ensembl chr38:17,867,182...17,920,085

G

ryanodine receptor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875

G

S100 calcium binding protein A1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,428,819...43,432,637
Ensembl chr 7:43,428,820...43,433,459

G

S100 calcium binding protein A10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,984,138...60,994,915

G

S100 calcium binding protein A11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,020,136...61,050,513

G

S100 calcium binding protein A12

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,554,078...43,555,470
Ensembl chr 7:43,554,146...43,555,475

G

S100 calcium binding protein A13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,428,538...43,442,052
Ensembl chr 7:43,433,253...43,447,513

G

S100 calcium binding protein A14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,443,073...43,446,416
Ensembl chr 7:43,444,396...43,446,287

G

S100 calcium binding protein A16

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,447,422...43,452,625
Ensembl chr 7:43,447,494...43,452,130

G

S100 calcium binding protein A2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,473,788...43,482,073
Ensembl chr 7:43,471,753...43,482,105

G

S100 calcium binding protein A3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,490,128...43,492,383

G

S100 calcium binding protein A4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,494,007...43,496,021

G

S100 calcium binding protein A5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,497,738...43,501,010
Ensembl chr 7:43,491,466...43,500,936

G

S100 calcium binding protein A6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604

G

S100 calcium binding protein A8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604

G

S100 calcium binding protein A9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,566,993...43,570,074

G

spalt like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:1,413,991...1,421,516
Ensembl chr 1:1,416,390...1,435,326

G

secretory carrier membrane protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,294,764...42,299,097

G

saccharopine dehydrogenase (putative)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:37,449,528...37,488,047
Ensembl chr 7:37,449,738...37,487,682
Ensembl chr 7:37,449,738...37,487,682

G

sodium channel modifier 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,231,034...60,233,349
Ensembl chr17:60,231,104...60,233,337

G

SCY1 like pseudokinase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,751,604...28,796,042
Ensembl chr 7:28,751,707...28,795,756

G

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:34,395,977...34,631,479
Ensembl chr 7:34,396,345...34,631,462

G

SDE2 telomere maintenance homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,857,220...38,871,584
Ensembl chr 7:38,857,234...38,870,157

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor
ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic

PMID:8967754 PMID:9536098 PMID:10976639 PMID:16199547 PMID:16361598 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: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic

PMID:490809 PMID:2308387 PMID:7143317 PMID:9509062 PMID:9536098 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: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic

PMID:9536098 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15342702 More...

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

G

SEC16 homolog B, endoplasmic reticulum export factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:21,683,310...21,739,914
Ensembl chr 7:21,698,411...21,738,954

G

selectin E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786

G

selenium binding protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,410,727...60,418,770
Ensembl chr17:60,410,734...60,418,704

G

selectin L

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008

G

selectin P

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313

G

semaphorin 4A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,670,814...41,695,349
Ensembl chr 7:41,672,120...41,692,460

G

semaphorin 6C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,195,798...60,208,630
Ensembl chr17:60,195,785...60,208,630

G

serpin family C member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987

G

SERTA domain containing 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,856,298...8,862,280
Ensembl chr 7:8,856,330...8,860,526

G

SET domain containing 2, histone lysine methyltransferase

exacerbates

DNA:mutations:multiple (human)

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

G

SET domain bifurcated histone lysine methyltransferase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551

G

splicing factor 3b subunit 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991

G

SFT2 domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,258,748...30,281,371

G

SH2 domain containing 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,303,987...20,326,065
Ensembl chr38:20,303,709...20,321,761

G

SH2 domain containing 2A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122

G

SHC adaptor protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276

G

SHC binding and spindle associated 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,299,963...16,343,430
Ensembl chr 7:16,299,986...16,343,439

G

Src homology 2 domain containing E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,853,116...42,869,293
Ensembl chr 7:42,853,083...42,867,858

G

sonic hedgehog signaling molecule

disease_progression

NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903

G

shisa family member 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,064,833...1,066,591

G

serine hydroxymethyltransferase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 5:41,221,531...41,248,653
Ensembl chr 5:41,221,562...41,253,166

G

signal induced proliferation associated 1 like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:7,024,936...7,238,268
Ensembl chr 4:7,071,645...7,237,090

G

signaling lymphocytic activation molecule family member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,653,801...21,685,408
Ensembl chr38:21,653,487...21,685,408

G

SLAM family member 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,742,228...21,769,521
Ensembl chr38:21,742,301...21,764,494

G

SLAM family member 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,580,583...21,596,367
Ensembl chr38:21,581,439...21,596,348

G

SLAM family member 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,299,455...22,307,090
Ensembl chr38:22,300,128...22,307,096

G

SLAM family member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,199,752...22,202,299
Ensembl chr38:22,199,494...22,202,299

G

solute carrier family 19 member 1

ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma

PMID:15457444 PMID:15677700 PMID:17325736 PMID:18322994 PMID:19827168 More...

NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094

G

solute carrier family 19 member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249

G

solute carrier family 25 member 44

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,630,868...41,665,894
Ensembl chr 7:41,630,098...41,665,791

G

solute carrier family 26 member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,267,404...2,303,997
Ensembl chr38:2,276,065...2,304,066

G

solute carrier family 27 member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,321,059...43,325,766
Ensembl chr 7:43,321,130...43,325,089

G

solute carrier family 30 member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:9,952,373...9,959,382
Ensembl chr 7:9,955,877...9,959,388

G

solute carrier family 30 member 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540

G

solute carrier family 35 member F3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:5,526,010...5,915,965
Ensembl chr 4:5,460,906...5,915,942

G

solute carrier family 39 member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,171,219...43,174,876
Ensembl chr 7:43,171,287...43,174,036

G

solute carrier family 41 member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,216,378...2,239,303
Ensembl chr38:2,218,706...2,236,672

G

solute carrier family 45 member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,110,209...2,130,233
Ensembl chr38:2,078,008...2,125,069

G

solute carrier family 50 member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,370,031...42,372,390
Ensembl chr 7:42,370,299...42,372,322

G

solute carrier family 9 member C2 (putative)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,553,745...25,659,461
Ensembl chr 7:25,508,239...25,659,475

G

solute carrier organic anion transporter family member 1B2

treatment

DNA:SNP:: (rs4149117) (human)

NCBI chr27:26,411,008...26,496,174
Ensembl chr27:26,411,010...26,470,989

G

sperm mitochondria associated cysteine rich protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,694,605...61,699,122
Ensembl chr17:61,694,605...61,699,225

G

SMG5 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,598,111...41,624,575
Ensembl chr 7:41,598,104...41,624,575

G

SMG7 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:16,820,938...16,913,359
Ensembl chr 7:16,820,882...16,911,377

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

G

SET and MYND domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:12,281,581...12,331,294
Ensembl chr 7:12,281,710...12,331,164

G

SET and MYND domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:36,561,080...37,250,336
Ensembl chr 7:36,565,901...37,250,578

G

synaptosome associated protein 47

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:1,058,891...1,104,568
Ensembl chr14:1,056,802...1,104,574

G

SNAP associated protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,410,554...43,411,929
Ensembl chr 7:43,410,998...43,412,323

G

small nuclear ribonucleoprotein polypeptide E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:515,808...521,536
Ensembl chr38:515,860...521,535

G

sorting nexin 27

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253

G

sterol O-acyltransferase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055

G

SRY-box transcription factor 13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:702,974...721,340
Ensembl chr38:523,481...720,195

G

spermatogenesis associated 17

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:12,850,773...13,058,137
Ensembl chr38:12,850,469...13,146,096

G

spermatogenesis associated 45

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,958,793...10,970,098
Ensembl chr 7:10,958,904...10,965,744

G

spermatogenesis associated 46

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,344,580...20,346,813
Ensembl chr38:20,303,709...20,346,812

G

sperm microtubule inner protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:35,408,365...35,433,101
Ensembl chr 7:35,408,424...35,432,743

G

SprT-like N-terminal domain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,120,151...8,133,402
Ensembl chr 4:8,120,351...8,133,191

G

spectrin alpha, erythrocytic 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966

G

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:2,506,617...2,741,866

G

signal recognition particle 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:39,012,142...39,023,009
Ensembl chr 7:39,013,806...39,022,991

G

signal sequence receptor subunit 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,790,289...41,801,438
Ensembl chr 7:41,795,565...41,801,421

G

stromal interaction molecule 1

ameliorates

human cells in mouse model

NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375

G

serine/threonine kinase 36

CTD Direct Evidence: marker/mechanism

NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512

G

stum, mechanosensory transduction mediator homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,363,340...38,421,341
Ensembl chr 7:38,364,317...38,419,943

G

syntaxin 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:14,452,663...14,506,120
Ensembl chr 7:14,458,404...14,556,917

G

serine/threonine/tyrosine interacting like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:31,241,169...31,273,103
Ensembl chr 7:31,242,731...31,273,050

G

SUN domain containing ossification factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:26,375,414...26,410,001
Ensembl chr 7:26,376,990...26,464,125

G

SUFU negative regulator of hedgehog signaling

CTD Direct Evidence: marker/mechanism

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

G

sushi domain containing 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,640,882...23,685,288
Ensembl chr38:23,639,616...23,685,304

G

synaptic vesicle glycoprotein 2A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,185,715...59,195,888
Ensembl chr17:59,187,244...59,195,888

G

SWT1 RNA endoribonuclease homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:18,329,901...18,425,017
Ensembl chr 7:18,329,813...18,458,508

G

synaptotagmin 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,910,102...41,929,020
Ensembl chr 7:41,912,920...41,929,617

G

synaptotagmin 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,612,458...8,795,812
Ensembl chr 7:8,598,392...8,786,739

G

synaptotagmin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:497,387...509,338
Ensembl chr 7:497,394...502,952

G

transcriptional adaptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:31,513,289...31,529,891
Ensembl chr 7:31,513,496...31,528,843

G

TATA-box binding protein associated factor, RNA polymerase I subunit A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:16,827,853...16,858,506
Ensembl chr38:16,828,205...16,858,432

G

TATA-box binding protein associated factor 5 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:9,646,516...9,674,318
Ensembl chr 4:9,646,510...9,673,148

G

transgelin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,224,223...22,230,292
Ensembl chr38:22,225,133...22,229,766

G

TAR (HIV-1) RNA binding protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:5,359,396...5,442,393
Ensembl chr 4:5,358,816...5,442,275

G

threonyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,681,889...59,695,747
Ensembl chr17:59,681,936...59,695,746

G

TatD DNase domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:10,930,856...10,949,186
Ensembl chr 7:10,930,894...10,948,718

G

tubulin folding cofactor E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:4,490,892...4,569,401
Ensembl chr 4:4,490,994...4,569,357

G

T-box transcription factor 19

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,198,912...30,248,410
Ensembl chr 7:30,185,850...30,365,512

G

trichohyalin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,095,132...61,102,663

G

trichohyalin like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:61,077,129...61,081,240
Ensembl chr17:61,077,944...61,081,233

G

tudor domain containing 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,259,940...20,348,014
Ensembl chr 7:20,261,630...20,348,650

G

tudor and KH domain containing

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,794,937...60,807,852
Ensembl chr17:60,795,813...60,805,449

G

telomerase reverse transcriptase

susceptibility

DNA:SNP: :rs2736098(human)

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

G

testis expressed 35

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:21,202,638...21,213,926
Ensembl chr 7:21,203,226...21,212,163

G

transcription factor B2, mitochondrial

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:37,259,671...37,278,397
Ensembl chr 7:37,250,601...37,278,366

G

transforming growth factor beta 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242

G

transforming growth factor beta receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636

G

thrombospondin 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,327,899...42,338,177
Ensembl chr 7:42,328,592...42,338,171

G

thioesterase superfamily member 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,889,245...60,924,848
Ensembl chr17:60,891,660...60,925,091

G

thioesterase superfamily member 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,857,348...60,865,789
Ensembl chr17:60,857,350...60,865,579

G

translocase of inner mitochondrial membrane 17A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,002,710...1,015,803
Ensembl chr 7:1,003,236...1,015,694

G

TOR signaling pathway regulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:30,291,330...30,329,317
Ensembl chr 7:30,185,850...30,365,512

G

toll like receptor 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:23,700,323...23,705,628
Ensembl chr38:23,702,033...23,705,314

G

transmembrane and coiled-coil domain family 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,733,826...1,775,072
Ensembl chr38:1,734,051...1,773,817

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283

G

transmembrane protein 17

CTD Direct Evidence: marker/mechanism

NCBI chr10:62,355,849...62,361,445
Ensembl chr10:62,356,277...62,361,397

G

transmembrane protein 183A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:166,640...180,680
Ensembl chr 7:166,974...180,660

G

transmembrane protein 231

CTD Direct Evidence: marker/mechanism

NCBI chr 5:75,246,043...75,266,705
Ensembl chr 5:75,246,043...75,265,021

G

transmembrane protein 63A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:38,936,989...38,964,349
Ensembl chr 7:38,937,041...38,964,345

G

transmembrane protein 79

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,591,332...41,597,993
Ensembl chr 7:41,591,848...41,595,816

G

transmembrane protein 81

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:1,604,068...1,606,594
Ensembl chr38:1,604,288...1,605,254

G

transmembrane protein 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,069,017...2,087,961

G

tropomodulin 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,234,061...60,238,950
Ensembl chr17:60,234,096...60,238,864

G

TNF alpha induced protein 8 like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,219,239...60,222,818
Ensembl chr17:60,221,592...60,222,146

G

TNF superfamily member 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,983,064...25,994,605
Ensembl chr 7:25,963,719...25,992,801

G

TNF superfamily member 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892

G

tenascin N

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:24,246,481...24,342,686
Ensembl chr 7:24,230,930...24,308,520

G

troponin I1, slow skeletal type

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,647,138...1,658,648
Ensembl chr 7:1,647,377...1,658,724

G

troponin T2, cardiac type

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741

G

tenascin R

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:23,721,227...24,125,183
Ensembl chr 7:24,019,095...24,122,530

G

translocase of outer mitochondrial membrane 20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:4,785,589...4,802,170
Ensembl chr 4:4,785,584...4,801,006

G

translocase of outer mitochondrial membrane 40 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,257,022...21,261,881
Ensembl chr38:21,257,006...21,261,356

G

torsin 1A interacting protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:13,452,808...13,501,392
Ensembl chr 7:13,452,949...13,501,307

G

torsin family 3 member A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:20,737,733...20,754,368
Ensembl chr 7:20,738,161...20,750,635

G

tumor protein p53 binding protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:40,296,278...40,329,818
Ensembl chr 7:40,252,697...40,329,828

G

tropomyosin 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296

G

translocated promoter region, nuclear basket protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:19,376,951...19,442,368
Ensembl chr 7:19,376,975...19,442,303

G

TRAF3 interacting protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,421,163...8,444,399
Ensembl chr 7:8,421,788...8,444,397

G

TNF receptor associated factor 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:9,812,019...9,831,955
Ensembl chr 7:9,812,132...9,831,955

G

tripartite motif containing 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:640,375...647,427

G

tripartite motif containing 17

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:633,767...639,543
Ensembl chr14:634,060...647,431

G

tripartite motif containing 46

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,345,506...42,354,667
Ensembl chr 7:42,345,523...42,354,557

G

tripartite motif containing 58

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:1,582,244...1,599,482
Ensembl chr14:1,576,272...1,598,487

G

tripartite motif containing 67

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,211,013...8,259,907
Ensembl chr 4:8,213,308...8,259,342

G

tRNA methyltransferase 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:18,294,489...18,330,002
Ensembl chr 7:18,295,027...18,329,730

G

TSSK6 activating cochaperone

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,557,977...41,566,581
Ensembl chr 7:41,538,214...41,566,057

G

tRNA splicing endonuclease subunit 15

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:17,356,210...17,441,212
Ensembl chr 7:17,356,909...17,405,808

G

translin associated factor X

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:7,937,622...7,968,014
Ensembl chr 4:7,937,820...7,967,889

G

thiosulfate sulfurtransferase like domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,419,306...21,421,428
Ensembl chr38:21,419,346...21,421,427

G

tetratricopeptide repeat domain 13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:8,424,835...8,503,133
Ensembl chr 4:8,424,882...8,502,600

G

tetratricopeptide repeat domain 24

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,372,960...41,381,514

G

tuftelin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,580,032...60,628,422
Ensembl chr17:60,580,082...60,627,174

G

TUB like protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr27:41,819,574...41,884,198
Ensembl chr27:41,819,455...41,884,097

G

thioredoxin interacting protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:58,775,588...58,779,730
Ensembl chr17:58,776,871...58,779,531

G

UDP-N-acetylglucosamine pyrophosphorylase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,190,026...20,228,353
Ensembl chr38:20,190,375...20,277,923

G

ubiquitin associated protein 2 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,973,598...43,015,007
Ensembl chr 7:42,974,092...43,010,848

G

ubiquitin conjugating enzyme E2 Q1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,806,185...42,813,586
Ensembl chr 7:42,806,185...42,814,747

G

ubiquitin conjugating enzyme E2 T

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:719,128...726,128
Ensembl chr 7:719,116...725,898

G

ubiquilin 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:41,764,209...41,778,457
Ensembl chr 7:41,764,253...41,777,002

G

ubiquitin C-terminal hydrolase L5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:6,004,595...6,045,999
Ensembl chr38:6,004,659...6,113,714

G

uridine-cytidine kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:17,475,789...17,555,926
Ensembl chr38:17,479,558...17,579,675

G

ubiquitin-fold modifier conjugating enzyme 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,319,039...21,339,524
Ensembl chr38:21,319,054...21,340,211

G

U2AF homology motif kinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:20,247,564...20,277,941
Ensembl chr38:20,190,375...20,277,923

G

URB2 ribosome biogenesis homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:9,617,824...9,645,763
Ensembl chr 4:9,616,020...9,645,835

G

upstream transcription factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,412,943...21,419,072
Ensembl chr38:21,413,050...21,418,569

G

usherin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

G

ubiquitin specific peptidase 21

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,311,859...21,318,414
Ensembl chr38:21,311,859...21,320,106

G

UTP25 small subunit processome component

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:8,477,026...8,512,713
Ensembl chr 7:8,488,350...8,512,705

G

vesicle associated membrane protein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:27,278,200...27,303,499
Ensembl chr 7:27,278,231...27,302,225

G

VANGL planar cell polarity protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:21,822,873...21,824,537

G

vasohibin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:11,073,156...11,111,813
Ensembl chr 7:11,072,215...11,111,166

G

vacuolar protein sorting 45 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:59,327,781...59,402,172
Ensembl chr17:59,327,806...59,397,811

G

vacuolar protein sorting 72 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,239,299...60,252,323
Ensembl chr17:60,239,395...60,252,280

G

V-set and immunoglobulin domain containing 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:22,278,668...22,285,444
Ensembl chr38:22,278,807...22,285,444

G

WD repeat domain 26

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:39,968,183...40,003,221
Ensembl chr 7:39,967,576...39,997,853

G

WD repeat domain 64

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:33,048,315...33,185,363

G

Wnt family member 3A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:864,393...899,698
Ensembl chr14:863,424...896,412

G

Wnt family member 9A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr14:946,843...959,289
Ensembl chr14:953,244...959,295

G

xenotropic and polytropic retrovirus receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:14,165,608...14,379,822
Ensembl chr 7:14,165,608...14,379,822

G

YOD1 deubiquitinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:6,185,650...6,194,005
Ensembl chr 7:6,190,752...6,193,284

G

zinc finger BED-type containing 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:461,394...467,894

G

zinc finger and BTB domain containing 11

CTD Direct Evidence: marker/mechanism

NCBI chr33:7,983,192...8,015,590
Ensembl chr33:7,984,851...8,015,391

G

zinc finger and BTB domain containing 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:35,123,417...35,130,349
Ensembl chr 7:35,117,209...35,129,134

G

zinc finger and BTB domain containing 37

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:25,333,540...25,362,098
Ensembl chr 7:25,349,786...25,361,439

G

zinc finger and BTB domain containing 41

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:5,543,424...5,587,452
Ensembl chr 7:5,543,361...5,583,310

G

zinc finger and BTB domain containing 7B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:42,468,376...42,482,219
Ensembl chr 7:42,468,247...42,483,436

G

zinc finger CCCH-type containing 11A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr38:477,900...505,754

G

zinc finger protein 281

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:2,716,575...2,721,524
Ensembl chr 7:2,716,974...2,719,613

G

zinc finger protein 496

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:169,247...196,996
Ensembl chr 8:171,476...196,647

G

zinc finger protein 648

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 7:15,479,169...15,485,292
Ensembl chr 7:15,479,793...15,481,502

G

zinc finger protein 687

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:60,350,753...60,359,542
Ensembl chr17:60,353,847...60,359,619

G

zona pellucida glycoprotein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 4:2,324,657...2,332,357
Ensembl chr 4:2,324,226...2,331,470

glioblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 3

mRNA:increased expression:brain (human)

NCBI chr19:35,097,968...35,133,330
Ensembl chr19:35,098,639...35,169,724

G

adhesion G protein-coupled receptor B1

treatment

mRNA:decreased expression:brain:

PMID:12507886 PMID:16244591

RGD:13831352 RGD:13831355

NCBI chr13:36,627,791...36,649,013
Ensembl chr13:36,614,498...36,690,936

G

adhesion G protein-coupled receptor L4

severity
treatment

PMID:23096411 PMID:27416955

RGD:13838664 RGD:13838665

NCBI chr 6:68,078,481...68,189,422
Ensembl chr 6:68,078,246...68,220,743

G

AKT serine/threonine kinase 1

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

G

AKT serine/threonine kinase 3

disease_progression

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

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

arrestin beta 2

ameliorates

NCBI chr 5:31,831,208...31,838,875
Ensembl chr 5:31,829,864...31,839,454

G

assembly factor for spindle microtubules

mRNA:increased expression:brain:

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

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Glioblastoma

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

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

G

ATRX chromatin remodeler

disease_progression

ClinVar Annotator: match by term: Glioblastoma multiforme, somatic

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

G

BAG cochaperone 3

treatment

NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583

G

beclin 1

disease_progression

NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236

G

basic helix-loop-helix family member e40

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,641,872...12,647,519
Ensembl chr20:12,642,702...12,647,525

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

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Glioblastoma

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

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

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:26455392 PMID:27388964

NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608

G

bromodomain containing 7

protein:increased expression:brain:

NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Glioblastoma

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

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

G

chromobox 6

disease_progression

mRNA,protein:decreased expression:astrocyte:

NCBI chr10:25,967,305...25,973,489
Ensembl chr10:25,967,300...25,988,497

G

chromobox 7

disease_progression

mRNA,protein:decreased expression:astrocyte:

NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501

G

chromobox 8

mRNA:increased expression:astrocyte:

NCBI chr 9:1,839,701...1,842,355
Ensembl chr 9:1,839,096...1,843,099

G

cyclin H

CTD Direct Evidence: marker/mechanism

NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315

G

CD9 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576

G

cyclin dependent kinase 4

DNA:amplication

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

G

cyclin dependent kinase 6

severity

CTD Direct Evidence: marker/mechanism

PMID:10884881 PMID:20534551

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

G

cyclin dependent kinase inhibitor 2A

treatment

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

chromatin assembly factor 1 subunit B

protein:increased expression:brain:

NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784

G

chitinase 3 like 1

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

PMID:11161003 PMID:21029458

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

G

cytoplasmic polyadenylation element binding protein 1

disease_progression

NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221

G

CREB binding protein

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

cystatin A

CTD Direct Evidence: marker/mechanism

NCBI chr33:25,477,789...25,489,123
Ensembl chr33:25,478,055...25,489,121

G

cystatin B

CTD Direct Evidence: marker/mechanism

G

catenin delta 2

CTD Direct Evidence: marker/mechanism

NCBI chr34:2,521,730...3,438,218
Ensembl chr34:2,521,724...3,437,292

G

cathepsin B

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

PMID:17898873 PMID:22287159

NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801

G

cathepsin H

protein:increased expression:brain

NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718

G

cathepsin K

CTD Direct Evidence: marker/mechanism

NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

deuterosome assembly protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:7,209,524...7,334,200
Ensembl chr21:7,209,531...7,334,606

G

deleted in malignant brain tumors 1

DNA:deletion

NCBI chr28:32,198,250...32,286,517
Ensembl chr28:32,219,448...32,286,532

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Glioblastoma

NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902

G

dual specificity phosphatase 6

CTD Direct Evidence: marker/mechanism

NCBI chr15:30,322,472...30,327,221
Ensembl chr15:30,323,697...30,326,508

G

epidermal growth factor

susceptibility

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

PMID:16598420 PMID:22481252

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

G

epidermal growth factor receptor

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

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

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

severity

protein:increased expression:brain (human)

NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

fatty acid binding protein 7

severity

mRNA, protein:increased expression:brain (human)

NCBI chr 1:62,084,372...62,088,547
Ensembl chr 1:61,967,129...62,088,547

G

family with sequence similarity 83 member D

CTD Direct Evidence: marker/mechanism

NCBI chr24:27,302,442...27,323,780
Ensembl chr24:27,302,469...27,323,350

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Glioblastoma

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

fms related receptor tyrosine kinase 3 ligand

treatment

NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123

G

FOS like 2, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772

G

frataxin

NCBI chr 1:88,288,566...88,311,228
Ensembl chr 1:88,288,566...88,311,228

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

glutamate ionotropic receptor kainate type subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:58,932,754...59,991,305
Ensembl chr12:59,355,017...59,990,408

G

H2A.X variant histone

CTD Direct Evidence: marker/mechanism

NCBI chr 5:14,765,625...14,766,590
Ensembl chr 5:14,766,126...14,766,557

G

H3.3 histone A

ClinVar Annotator: match by term: Glioblastoma

PMID:26619011 PMID:26822237

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

G

HEAT repeat containing 1

mRNA, protein:increased expression:brain

NCBI chr 4:3,501,191...3,547,212
Ensembl chr 4:3,501,571...3,547,100

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

homeobox D10

CTD Direct Evidence: marker/mechanism

NCBI chr36:19,924,352...19,927,706
Ensembl chr36:19,916,175...19,927,724

G

HRas proto-oncogene, GTPase

severity

ClinVar Annotator: match by term: Glioblastoma

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

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

G

isocitrate dehydrogenase (NADP(+)) 1

disease_progression
onset

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

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

RGD:11074562 RGD:11522732

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

G

interleukin 16

protein:increased expression:brain

NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 2

CTD Direct Evidence: therapeutic

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:72,535,539...72,553,531
Ensembl chr 8:72,535,107...72,550,322

G

potassium voltage-gated channel subfamily C member 2

mRNA:splice variant (human)

NCBI chr10:15,599,428...15,822,579
Ensembl chr10:15,643,962...15,818,097

G

kinase insert domain receptor

treatment

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

G

KRAS proto-oncogene, GTPase

treatment

mRNA:decreased expression:brain

PMID:16166301 PMID:19179066

RGD:13702861 RGD:13702872

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

G

L1 cell adhesion molecule

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

NCBI chr X:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

leucine rich repeat containing 59

CTD Direct Evidence: marker/mechanism

NCBI chr 9:26,350,300...26,364,021
Ensembl chr 9:26,351,734...26,364,082

G

latent transforming growth factor beta binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:113,124,109...113,152,283
Ensembl chr 1:113,124,109...113,150,442

G

leucine zipper like post translational regulator 1

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

NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611

G

macrophage immunometabolism regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 3:7,956,865...7,968,964

G

microtubule associated protein 1 light chain 3 alpha

treatment

NCBI chr24:23,672,343...23,673,937
Ensembl chr24:23,633,579...23,673,921

G

mitogen-activated protein kinase kinase 2

treatment

NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641

G

mitogen-activated protein kinase kinase 3

disease_progression

protein:increased expression, increased phosphorylation:brain

NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736

G

MDM2 proto-oncogene

DNA:amplication

NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596

G

MDM4 regulator of p53

CTD Direct Evidence: marker/mechanism

NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166

G

mediator complex subunit 12

ClinVar Annotator: match by term: Glioblastoma

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

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

O-6-methylguanine-DNA methyltransferase

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

PMID:14669534 PMID:20131314 PMID:22162573

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

microRNA mir-21

ameliorates

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

G

microRNA mir-31

RNA:decreased expression:brain (human)

NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503

G

matrix metallopeptidase 2

severity

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

PMID:7616276 PMID:16598420

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 7

severity

protein:increased expression:brain (human)

NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153

G

matrix metallopeptidase 9

severity
treatment

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

PMID:7616276 PMID:12439751 PMID:16598420

RGD:7207145 RGD:8547973

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

mutS homolog 2

ClinVar Annotator: match by term: Glioblastoma

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Glioblastoma

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

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

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

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

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Glioblastoma

NCBI chr17:11,720,857...11,724,308

G

nuclear receptor corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:39,687,530...39,837,003
Ensembl chr 5:39,687,543...39,836,464

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382

G

NDRG family member 4

mRNA, protein:decreased expression:brain

NCBI chr 2:58,144,113...58,160,885
Ensembl chr 2:58,144,105...58,183,470

G

N-terminal EF-hand calcium binding protein 3

disease_progression

NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656

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

NFKB inhibitor alpha

treatment

human cell line in a mouse model

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Glioblastoma

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

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

G

platelet derived growth factor subunit B

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

G

platelet derived growth factor receptor beta

treatment

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

G

podoplanin

NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375

G

platelet and endothelial cell adhesion molecule 1

NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778

G

placental growth factor

disease_progression

NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170

G

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

ClinVar Annotator: match by term: Glioblastoma

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

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

G

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

disease_progression

PMID:21188471 PMID:26956052

RGD:11343921 RGD:13782050

NCBI chr23:34,832,661...34,955,410
Ensembl chr23:34,836,540...34,993,939

G

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

disease_progression

NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Glioblastoma

PMID:19962457 PMID:25157968 PMID:26619011

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

G

Pim-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,213,504...6,217,933
Ensembl chr12:6,211,867...6,217,933

G

PML nuclear body scaffold

CTD Direct Evidence: marker/mechanism

NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Glioblastoma

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

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

G

DNA polymerase kappa

CTD Direct Evidence: marker/mechanism

NCBI chr 3:30,793,893...30,860,240
Ensembl chr 3:30,712,571...30,859,106

G

protection of telomeres 1

ClinVar Annotator: match by term: Glioblastoma, somatic

NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956

G

peroxisome proliferator activated receptor gamma

ClinVar Annotator: match by term: Glioblastoma, somatic

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

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

parkin RBR E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764

G

prominin 1

CTD Direct Evidence: marker/mechanism

PMID:18679414 PMID:18829568 PMID:19718438

NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Glioblastoma

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

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

G

prostaglandin-endoperoxide synthase 1

disease_progression

protein:increased expression:microglia, macrophage,

PMID:10229132 PMID:11121536

RGD:5688245 RGD:5688250

NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:endothelial cell

PMID:10229132 PMID:11121536

RGD:5688245 RGD:5688250

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294

G

pleiotrophin

protein:increased expression:brain (human)

NCBI chr16:11,283,078...11,382,820
Ensembl chr16:11,283,077...11,382,814

G

protein tyrosine phosphatase receptor type B

treatment

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

PMID:14692702 PMID:15831233 PMID:16489031

RGD:151660504 RGD:151660507 RGD:151664746

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

G

RB transcriptional corepressor 1

severity

DNA:hypermethylation:promoter:

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

G

reversion inducing cysteine rich protein with kazal motifs

CTD Direct Evidence: therapeutic

NCBI chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217

G

ribosomal protein L35a

mRNA:increased expression:brain (human)

NCBI chr33:28,741,796...28,745,043
Ensembl chr33:28,741,819...28,744,672

G

ribosomal protein L5

DNA:mutations:multiple (human)

NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

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

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

G

septin 14

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,103,092...25,201,880
Ensembl chr18:25,121,175...25,202,140

G

serpin family G member 1

treatment

NCBI chr18:38,570,354...38,580,751
Ensembl chr18:38,570,607...38,581,665

G

solute carrier family 22 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr18:53,597,148...53,628,569
Ensembl chr18:53,597,533...53,628,165

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Glioblastoma multiforme

NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190

G

serrate, RNA effector molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,881,171...8,893,504
Ensembl chr 6:8,881,176...8,892,963

G

signal transducer and activator of transcription 3

disease_progression

mRNA, protein:increased expression:brain (human)

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

G

signal transducer and activator of transcription 5A

treatment
disease_progression

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

NCBI chr 9:20,616,041...20,638,523
Ensembl chr 9:20,617,151...20,638,103

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645

G

testin LIM domain protein

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,217,768...55,240,668
Ensembl chr14:55,177,375...55,240,668

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16170020 PMID:17099729

NCBI chr24:26,631,339...26,662,723
Ensembl chr24:26,628,009...26,663,840

G

transmembrane protein 135

CTD Direct Evidence: marker/mechanism

NCBI chr21:12,410,128...12,698,099
Ensembl chr21:12,411,826...12,637,912

G

tenascin C

NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060

G

tumor protein p53

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

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

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

G

tumor protein p53 binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr30:10,263,650...10,362,646
Ensembl chr30:10,263,650...10,336,134

G

tRNA methyltransferase 11 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,861,404...64,917,449
Ensembl chr 1:64,834,770...65,064,562

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

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

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

zinc finger and BTB domain containing 7A

CTD Direct Evidence: marker/mechanism

NCBI chr20:55,517,531...55,527,071
Ensembl chr20:55,505,916...55,523,736

glioblastoma proneural subtype

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

RNA:decreased expression:brain:

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

gliosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

severity

mouse gene in a rat model

NCBI chr 9:39,008,187...39,009,932

G

cytochrome P450 2B11

CTD Direct Evidence: therapeutic

PMID:9766669 PMID:11389073

NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293

G

cytochrome P450 2C21

CTD Direct Evidence: therapeutic

NCBI chr28:8,727,010...8,750,427
Ensembl chr28:8,727,019...8,750,587

G

plasminogen activator, urokinase

severity

mouse gene in rat model

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

cytochrome p450 oxidoreductase

CTD Direct Evidence: therapeutic

NCBI chr 6:7,247,780...7,316,282
Ensembl chr 6:7,263,574...7,316,297

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:microglia, macrophage,

NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:endothelial cell

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

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

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: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations

PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More...

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

glomus tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glomulin, FKBP associated protein

glomuvenous malformations

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

hemangioblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

delta like canonical Notch ligand 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940

G

hes related family bHLH transcription factor with YRPW motif 1

mRNA,protein:increased expression:temporal lobe :

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382

G

notch receptor 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760

hemangiopericytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

delta like canonical Notch ligand 4

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940

G

EPH receptor B4

mRNA,protein:decreased expression:anterior temporal lobe

NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324

G

hes family bHLH transcription factor 1

mRNA:increased expression:anterior temporal lobe

G

hes related family bHLH transcription factor with YRPW motif 1

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

hes related family bHLH transcription factor with YRPW motif 2

mRNA:increased expression:anterior temporal lobe

NCBI chr 1:64,630,656...64,646,546

G

kinase insert domain receptor

mRNA:increased expression:anterior temporal lobe

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

G

notch receptor 1

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 4

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760

G

phosphatase and tensin homolog

protein:decreased expression:anterior temporal lobe

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

hepatic angiomyolipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TSC complex subunit 2

DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple

PMID:22251200 PMID:29512829

RGD:21079730 RGD:21079732

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

hereditary desmoid disease

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 disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation

PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:2068566 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 caused by somatic mutation

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

hereditary multiple exostoses

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cellular communication network factor 3

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:18,507,586...18,515,755
Ensembl chr13:18,507,580...18,514,619

G

collectin subfamily member 10

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:18,291,168...18,331,918
Ensembl chr13:18,291,051...18,330,617

G

eukaryotic translation initiation factor 3 subunit H

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:16,105,960...16,201,902
Ensembl chr13:16,105,990...16,341,153

G

ectonucleotide pyrophosphatase/phosphodiesterase 2

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:18,586,886...18,697,339
Ensembl chr13:18,587,129...18,697,324

G

exostosin glycosyltransferase 1

ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More...

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

G

exostosin glycosyltransferase 2

ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas

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

NCBI chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974

G

mal, T cell differentiation protein 2

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:18,404,979...18,422,076
Ensembl chr13:18,406,633...18,420,469

G

mediator complex subunit 30

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:16,928,166...16,949,503
Ensembl chr13:16,928,161...16,949,295

G

protein tyrosine phosphatase non-receptor type 11

CTD Direct Evidence: marker/mechanism

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

G

RAD21 cohesin complex component

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035

G

sterile alpha motif domain containing 12

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:17,525,855...17,897,153
Ensembl chr13:17,528,421...17,897,009

G

solute carrier family 30 member 8

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:16,602,255...16,637,299
Ensembl chr13:16,601,912...16,635,880

G

TATA-box binding protein associated factor 2

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:18,724,408...18,824,025
Ensembl chr13:18,729,234...18,823,979

G

TNF receptor superfamily member 11b

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444

G

UTP23 small subunit processome component

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr13:16,213,131...16,219,726
Ensembl chr13:16,213,159...16,339,964

high grade ependymoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Malignant ependymoma

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

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

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Malignant ependymoma

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

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

high grade glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1

ClinVar Annotator: match by term: Brainstem glioma

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

NCBI chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652

G

adhesion G protein-coupled receptor A2

ClinVar Annotator: match by term: Ependymoma

NCBI chr16:27,547,722...27,583,069
Ensembl chr16:27,549,308...27,583,070

G

AKT serine/threonine kinase 2

protein:increased expression:cytoplasm (human)

NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131

G

angiomotin like 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:6,109,600...6,280,025
Ensembl chr21:6,109,683...6,256,060

G

angiopoietin 2

protein:increased expression:brain (rat)

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

G

apolipoprotein D

CTD Direct Evidence: marker/mechanism

NCBI chr33:30,490,149...30,504,804
Ensembl chr33:30,488,135...30,509,289

G

A-Raf proto-oncogene, serine/threonine kinase

disease_progression

NCBI chr X:41,180,082...41,191,579
Ensembl chr X:41,180,250...41,191,310

G

amphiregulin

NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:5,398,833...5,690,041
Ensembl chr 5:5,380,831...5,686,840

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104

G

ADP ribosylation factor like GTPase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,169,225...52,175,782

G

assembly factor for spindle microtubules

disease_progression

mRNA:increased expression:brain:

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

G

activating transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:106,631,711...106,636,477
Ensembl chr 1:106,632,353...106,636,502

G

autophagy related 2A

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,258,070...52,277,953
Ensembl chr18:52,258,187...52,277,965

G

autophagy related 7

treatment

NCBI chr20:6,916,354...7,154,849
Ensembl chr20:6,916,515...7,154,800

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Malignant glioma

PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More...

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

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504

G

ATRX chromatin remodeler

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

PMID:23104868 PMID:23583981 PMID:24705251

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

G

BCL2 associated agonist of cell death

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405

G

BTG3 associated nuclear protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:65,151,863...65,256,782
Ensembl chr 5:65,152,247...65,256,667

G

BRCA1 associated protein 1

ClinVar Annotator: match by term: Astrocytoma

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

G

BarH like homeobox 1

protein:increased expression:brain:

NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093

G

basic leucine zipper ATF-like transcription factor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,176,681...52,196,365
Ensembl chr18:52,175,549...52,195,404

G

brevican

severity

protein:increased expression:brain:

PMID:11585735 PMID:12799382 PMID:16061654 PMID:23253190

RGD:14392782 RGD:14392783 RGD:14392797 RGD:14392804

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

G

bradykinin receptor B2

mRNA:increased expression:brain

NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407

G

baculoviral IAP repeat containing 5

protein:increased expression:brain

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

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Brainstem glioma

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

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

G

BRCA2 DNA repair associated

susceptibility

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

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

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

G

bromodomain containing 7

protein:increased expression:brain:

NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799

G

complement C3

treatment

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Malignant glioma

PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More...

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

G

calcium voltage-gated channel auxiliary subunit gamma 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr10:27,750,314...27,862,646
Ensembl chr10:27,750,935...27,862,885

G

calcium/calmodulin dependent protein kinase II alpha

disease_progression

NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830

G

calcium/calmodulin dependent protein kinase II beta

disease_progression

G

calcium/calmodulin dependent protein kinase kinase 2

disease_progression

NCBI chr26:7,848,191...7,895,317
Ensembl chr26:7,847,466...7,893,410

G

calpain 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

catsper channel auxiliary subunit zeta

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,763,714...52,766,857

G

caveolin 1

NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935

G

caveolin 2

NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469

G

coiled-coil domain containing 88B

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,722,197...52,737,023
Ensembl chr18:52,708,838...52,736,728

G

cellular communication network factor 1

exacerbates

human cells in mouse model

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

G

cyclin D1

susceptibility
disease_progression

PMID:21844184 PMID:22304571

RGD:13681930 RGD:13702091

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

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255

G

CD40 molecule

treatment

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

CD80 molecule

NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380

G

CDC42 binding protein kinase gamma

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,319,363...52,338,531
Ensembl chr18:52,319,453...52,337,203

G

CDC42 effector protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,854,975...51,863,594
Ensembl chr18:51,857,367...51,858,011

G

cell division cycle associated 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,115,081...52,129,223
Ensembl chr18:52,115,203...52,120,817

G

cyclin dependent kinase 4

disease_progression

PMID:21844184 PMID:23761023

RGD:13702090 RGD:13702091

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

G

cyclin dependent kinase 6

severity

DNA:amplification:

PMID:9102208 PMID:22736304

RGD:13702093 RGD:13702094

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

G

cyclin dependent kinase inhibitor 1A

treatment
severity

DNA:hypermethylation:promoter:

PMID:9144534 PMID:18791688 PMID:20844987

RGD:13702125 RGD:13702128 RGD:13702129

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

cyclin dependent kinase inhibitor 2A

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:deletions

PMID:11314047 PMID:15814359 PMID:19578367

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cyclin dependent kinase inhibitor 2B

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

NCBI chr11:41,259,627...41,264,832

G

chromatin assembly factor 1 subunit A

susceptibility

DNA:SNP:intron:rs243356(human)

NCBI chr20:55,248,286...55,276,425
Ensembl chr20:55,248,288...55,276,900

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:brain:

NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784

G

checkpoint kinase 2

ClinVar Annotator: match by term: Astrocytoma

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

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

G

chitinase 3 like 1

CTD Direct Evidence: marker/mechanism

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

G

chloride voltage-gated channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621

G

chloride voltage-gated channel 3

CTD Direct Evidence: marker/mechanism

NCBI chr25:20,528,708...20,616,687
Ensembl chr25:20,528,699...20,615,070

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,705,789...42,860,701
Ensembl chr X:42,704,627...42,853,812

G

contactin 2

severity

mRNA, protein:increased expression:brain (human)

NCBI chr38:1,570,598...1,600,524
Ensembl chr38:1,576,898...1,596,621

G

cytochrome c oxidase subunit VIIIA (ubiquitous)

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,048,902...53,050,528
Ensembl chr18:53,048,902...53,050,528

G

ciliogenesis and planar polarity effector complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

PMID:25741868 PMID:28492532

NCBI chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267

G

colony stimulating factor 1

NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371

G

cathepsin B

NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801

G

C-X-C motif chemokine receptor 3

NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582

G

cytochrome P450 family 2 subfamily E member 1

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

NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754

G

decorin

disease_progression

NCBI chr15:31,833,492...31,887,699
Ensembl chr15:31,833,746...31,877,417

G

doublecortin

treatment
disease_progression

PMID:17178868 PMID:19681167 PMID:21477071

RGD:12904748 RGD:12904754 RGD:12904761

NCBI chr X:84,408,762...84,541,157
Ensembl chr X:84,408,895...84,517,827

G

discoidin domain receptor tyrosine kinase 1

severity

mRNA, protein:increased expression:brain (human)

NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543

G

DEP domain containing 5, GATOR1 subcomplex subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr26:24,629,369...24,754,728
Ensembl chr26:24,630,295...24,754,256

G

MHC class I DLA-88

CTD Direct Evidence: marker/mechanism

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

delta like non-canonical Notch ligand 1

NCBI chr 8:68,961,975...68,970,106
Ensembl chr 8:68,961,744...68,972,761

G

delta like canonical Notch ligand 4

ameliorates

NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940

G

Dmx like 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:8,435,939...8,563,525
Ensembl chr11:8,436,322...8,561,550

G

DnaJ heat shock protein family (Hsp40) member C4

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,825,099...52,829,069
Ensembl chr18:52,825,100...52,831,523

G

double PHD fingers 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087

G

E2F transcription factor 3

disease_progression

NCBI chr35:19,012,646...19,086,674
Ensembl chr35:19,012,324...19,083,634

G

EGF containing fibulin extracellular matrix protein 1

protein:increased expression:brain:

NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187

G

elongation factor like GTPase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:55,720,949...55,840,873
Ensembl chr 3:55,711,048...55,840,888

G

epidermal growth factor

susceptibility

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

PMID:17473192 PMID:22106858

RGD:13702473 RGD:13702474

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

G

epidermal growth factor receptor

treatment

ClinVar Annotator: match by term: Brainstem glioma

PMID:10616092 PMID:17177598 PMID:26619011

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

EH domain binding protein 1 like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315

G

EH domain containing 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,291,304...52,312,787
Ensembl chr18:52,291,327...52,311,526

G

ectonucleoside triphosphate diphosphohydrolase 2

NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452

G

EPH receptor A5

ClinVar Annotator: match by term: Astrocytoma

NCBI chr13:56,054,247...56,402,583
Ensembl chr13:56,058,800...56,383,301

G

erythropoietin

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

G

erythropoietin receptor

NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Glioma susceptibility 1

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

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

NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

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

G

ERCC excision repair 5, endonuclease

susceptibility

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

NCBI chr22:52,339,011...52,372,618

G

estrogen related receptor alpha

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355

G

coagulation factor II, thrombin

treatment

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

family with sequence similarity 107 member A

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,047,132...32,099,815
Ensembl chr20:32,047,625...32,097,585

G

family with sequence similarity 89 member B

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,632,509...51,634,218
Ensembl chr18:51,632,781...51,634,034

G

Fas cell surface death receptor

severity

mouse gene in a rat model

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

G

FAU ubiquitin like and ribosomal protein S30 fusion

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,072,705...52,074,337
Ensembl chr18:52,072,796...52,074,336

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

FERM domain containing kindlin 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667

G

fibroblast growth factor 2

CTD Direct Evidence: therapeutic

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma

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

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

fibronectin leucine rich transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,926,735...52,958,089
Ensembl chr18:52,927,572...52,929,659

G

fms related receptor tyrosine kinase 3 ligand

treatment

NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708

G

FERM domain containing 8

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,782,664...51,807,343
Ensembl chr18:51,784,413...51,806,874

G

ferritin heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732

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

gap junction protein alpha 1

NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936

G

galactosidase beta 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191

G

glycoprotein hormone subunit alpha 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,211,748...52,244,591
Ensembl chr18:52,211,716...52,240,823
Ensembl chr18:52,211,716...52,240,823

G

G protein-coupled receptor 137

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,776,857...52,781,050
Ensembl chr18:52,776,858...52,779,783

G

glutathione S-transferase mu 3

DNA: deletion: intron 6

NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273

G

glutathione S-transferase pi 1

susceptibility

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

PMID:15006924 PMID:16899598

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

H3.3 histone A

ClinVar Annotator: match by term: Brainstem glioma

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

G

histone deacetylase 3

disease_progression

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

NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682

G

helicase, lymphoid specific

severity

NCBI chr28:8,660,866...8,705,570
Ensembl chr28:8,661,008...8,705,580

G

hepatocyte growth factor

disease_progression

protein:increased expression:brain:

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

high mobility group box 1

treatment

NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr36:19,913,064...19,926,868
Ensembl chr36:19,914,431...19,916,766

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

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

ClinVar Annotator: match by term: Ependymoma

NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062

G

heat shock protein family A (Hsp70) member 5

protein:increased expression

NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257

G

isocitrate dehydrogenase (NADP(+)) 1

susceptibility

ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1

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

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

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Brainstem glioma

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

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

G

interferon gamma

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

G

insulin like growth factor 1

severity

protein:increased expression:serum:

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

insulin like growth factor 1 receptor

DNA: SNP: : rs2272037 or rs2016347

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

insulin like growth factor binding protein 3

severity

protein:increased expression:serum:

NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392

G

interleukin 10

susceptibility

DNA:SNP: :rs1800896 (human)

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 12A

CTD Direct Evidence: therapeutic

NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550

G

interleukin 12B

CTD Direct Evidence: therapeutic

NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228

G

interleukin 18

treatment

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 2

treatment

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 4

treatment

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 7

NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737

G

ISG15 ubiquitin like modifier

CTD Direct Evidence: marker/mechanism

NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825

G

potassium two pore domain channel subfamily K member 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,767,151...52,775,053
Ensembl chr18:52,767,414...52,773,369

G

potassium two pore domain channel subfamily K member 7

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,609,373...51,613,802
Ensembl chr18:51,610,746...51,613,675

G

lysine demethylase 5B

disease_progression

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

G

kinase insert domain receptor

severity
disease_progression

PMID:10506722 PMID:20501615

RGD:5684393 RGD:5684425

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

G

kelch like family member 21

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:60,415,493...60,427,301
Ensembl chr 5:60,413,552...60,427,609

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Astrocytoma

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

G

KRAS proto-oncogene, GTPase

severity

PMID:19435821 PMID:22207524

RGD:13702477 RGD:13702860

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

G

kringle containing transmembrane protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 6:38,214,853...38,218,679
Ensembl chr 6:38,215,221...38,218,299

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136

G

galectin 3

disease_progression

NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705

G

DNA ligase 4

DNA:SNP: :rs1805388 (human)

NCBI chr22:56,980,333...56,987,636
Ensembl chr22:56,980,622...56,983,357

G

phosphatidylinositol 3-kinase regulatory subunit gamma

treatment

NCBI chr15:14,222,059...14,357,200
Ensembl chr15:14,235,824...14,353,832

G

GON-4-like protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr 7:41,927,667...42,000,649

G

lymphotoxin alpha

treatment

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433

G

mono-ADP ribosylhydrolase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,883,335...53,033,490
Ensembl chr18:52,883,362...53,162,034

G

mitogen-activated protein kinase kinase 1

NCBI chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479

G

mitogen-activated protein kinase kinase kinase 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,593,641...51,609,245
Ensembl chr18:51,594,274...51,608,696

G

mitogen-activated protein kinase kinase kinase kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,353,606...52,367,065
Ensembl chr18:52,353,232...52,366,712

G

mitogen-activated protein kinase kinase kinase kinase 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr17:31,253,632...31,439,148
Ensembl chr17:31,254,941...31,439,118

G

mitogen-activated protein kinase 3

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

microtubule affinity regulating kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,101,635...53,125,636
Ensembl chr18:53,101,624...53,151,561

G

midkine

CTD Direct Evidence: marker/mechanism

G

menin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:brain, glioma (rat)

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

PMID:16033832 PMID:16899598 PMID:19901110

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

microRNA mir-192

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193

G

marker of proliferation Ki-67

NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486

G

matrix metallopeptidase 2

treatment

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mitochondrial ribosomal protein L49

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,068,576...52,072,642
Ensembl chr18:52,069,605...52,072,591

G

mutS homolog 2

ClinVar Annotator: match by term: Ependymoma

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

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578

G

mechanistic target of rapamycin kinase

severity

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

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23583981 PMID:26829751

NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:16,155,867...16,192,814
Ensembl chr29:16,157,821...16,192,808

G

myosin light chain kinase

CTD Direct Evidence: marker/mechanism

NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181

G

N-alpha-acetyltransferase 40, NatD catalytic subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,054,662...53,077,156
Ensembl chr18:53,048,903...53,069,496

G

N-acetylated alpha-linked acidic dipeptidase like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,136,258...52,148,462
Ensembl chr18:52,136,358...52,148,674

G

NAD synthetase 1

susceptibility

NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514

G

NDRG family member 4

disease_progression

protein:decreased expression:brain

NCBI chr 2:58,144,113...58,160,885
Ensembl chr 2:58,144,105...58,183,470

G

N-terminal EF-hand calcium binding protein 3

severity

NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:30,450,946...30,463,280
Ensembl chr 2:30,450,965...30,492,074

G

neurofibromin 1

disease_progression

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

PMID:25119042 PMID:26190195

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

G

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

ClinVar Annotator: match by term: Ependymoma

NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196

G

nitric oxide synthase 3

protein:increased expression:blood vessel endothelial cell

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

neurexin 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,439,836...52,537,577
Ensembl chr18:52,439,230...52,536,401

G

neurotrophic receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288

G

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032

G

neurotrophic receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:51,131,470...51,491,112
Ensembl chr 3:51,138,751...51,513,024

G

nudix hydrolase 22

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,828,973...52,831,550
Ensembl chr18:52,829,015...52,831,787

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:40,225,531...40,226,507
Ensembl chr 3:40,225,474...40,226,612
Ensembl chr18:40,225,474...40,226,612

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:42,079,396...42,109,129
Ensembl chr X:42,081,561...42,108,612

G

POZ/BTB and AT hook containing zinc finger 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr26:24,277,719...24,296,440
Ensembl chr26:24,278,802...24,296,154

G

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

mRNA:decreased expression:brain:

NCBI chr 1:40,494,441...40,539,453
Ensembl chr 1:40,494,461...40,538,937

G

pecanex 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,572,004...51,592,811
Ensembl chr18:51,571,452...51,592,104

G

PDGFA associated protein 1

severity

NCBI chr 6:10,178,327...10,189,169
Ensembl chr 6:10,178,354...10,188,627

G

platelet derived growth factor subunit A

in a mouse model

NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396

G

platelet derived growth factor subunit B

severity

PMID:21677873 PMID:26945107 PMID:27448842

RGD:13702895 RGD:13702896 RGD:13702897

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

G

pleckstrin homology like domain family B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:15,090,823...15,138,397
Ensembl chr 5:15,090,813...15,134,784

G

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

ClinVar Annotator: match by term: Brainstem glioma

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

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

G

plasminogen activator, urokinase

severity

protein:increased expression:brain (human)

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

phospholipase C beta 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,793,848...52,809,065
Ensembl chr18:52,793,838...52,809,070

G

polo like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:22,165,338...22,176,847
Ensembl chr 6:22,165,338...22,176,441

G

DNA polymerase alpha 2, accessory subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,875,860...51,904,492
Ensembl chr18:51,875,903...51,904,746

G

protection of telomeres 1

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

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

NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956

G

POU class 3 homeobox 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:64,427,161...64,428,825
Ensembl chr X:64,427,325...64,428,410

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

G

peroxisome proliferator activated receptor gamma

ClinVar Annotator: match by term: Glioma susceptibility 1

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

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

protein phosphatase, Mg2+/Mn2+ dependent 1D

CTD Direct Evidence: marker/mechanism

NCBI chr 9:35,856,277...35,914,096
Ensembl chr 9:35,856,765...35,913,884

G

protein phosphatase 1 regulatory inhibitor subunit 14B

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,813,829...52,816,365
Ensembl chr18:52,814,174...52,816,365

G

protein phosphatase 2 regulatory subunit B'beta

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,244,588...52,253,055
Ensembl chr18:52,244,736...52,252,237

G

peroxiredoxin 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,750,977...52,754,432

G

protein kinase C alpha

DNA:gene fusion: :

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

G

pleckstrin and Sec7 domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:21,328,491...21,921,378
Ensembl chr16:21,336,642...21,921,460

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2

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

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

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Astrocytoma

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

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

G

glycogen phosphorylase, muscle associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,398,192...52,410,731
Ensembl chr18:52,398,056...52,410,464

G

QKI, KH domain containing RNA binding

CTD Direct Evidence: marker/mechanism

NCBI chr 1:51,800,294...51,956,891
Ensembl chr 1:51,800,309...51,952,714

G

Raf-1 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Glioma

NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090

G

RAS guanyl releasing protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,412,331...52,426,910
Ensembl chr18:52,412,367...52,426,916

G

REST corepressor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,096,599...53,101,427
Ensembl chr18:53,096,592...53,100,808

G

RELA proto-oncogene, NF-kB subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

ret proto-oncogene

ClinVar Annotator: match by term: Ependymoma

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

G

ring finger protein 43

exacerbates

protein:decreased expression:brain, brainstem (human)

NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313

G

ROS proto-oncogene 1, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:57,555,278...57,677,541
Ensembl chr 1:57,555,989...57,677,761

G

ribosomal protein S6 kinase A4

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,708,849...52,720,561
Ensembl chr18:52,708,838...52,736,728

G

regulator of telomere elongation helicase 1

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

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

G

SAC3 domain containing 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,148,661...52,151,920
Ensembl chr18:52,148,723...52,151,603

G

SCY1 like pseudokinase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090

G

serpin family E member 1

protein:increased expression:plasma

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

G

SET domain containing 9

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:44,046,549...44,073,781
Ensembl chr 2:44,046,605...44,073,536

G

SET domain bifurcated histone lysine methyltransferase 1

severity

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

NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551

G

splicing factor 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,380,058...52,393,833
Ensembl chr18:52,380,211...52,393,048

G

SH3 domain containing GRB2 like 1, endophilin A2

disease_progression
severity

protein:increased expression:cytoplasm,white matter:

NCBI chr20:55,279,622...55,311,579
Ensembl chr20:55,279,621...55,311,536

G

SH3 domain and tetratricopeptide repeats 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135

G

signal-induced proliferation-associated 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885

G

sirtuin 2

treatment

NCBI chr 1:114,224,922...114,235,041
Ensembl chr 1:114,224,900...114,234,583

G

solute carrier family 22 member 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,567,074...52,583,574
Ensembl chr18:52,568,396...52,583,844

G

solute carrier family 22 member 12

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,541,820...52,550,037
Ensembl chr18:52,542,497...52,549,655

G

solute carrier family 25 member 45

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,810,842...51,817,230
Ensembl chr18:51,811,039...51,816,094

G

solute carrier family 39 member 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr 9:6,978,031...7,244,985

G

solute carrier family 44 member 1

DNA:gene fusion: :

NCBI chr11:61,120,858...61,313,250
Ensembl chr11:61,120,176...61,312,590

G

solute carrier family 5 member 5

CTD Direct Evidence: therapeutic

NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209

G

solute carrier family 6 member 3

protein:decreased expression

NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742

G

solute carrier family 7 member 5

ameliorates

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

sorting nexin 15

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,152,562...52,165,081
Ensembl chr18:52,152,561...52,165,048

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

SRY-box transcription factor 6

NCBI chr21:38,737,072...39,320,257
Ensembl chr21:38,737,247...39,216,549

G

speedy/RINGO cell cycle regulator family member C

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,020,593...52,061,076
Ensembl chr18:52,020,785...52,022,762

G

sphingosine kinase 1

protein:increased expression:endothelial cell (rat)

NCBI chr 9:4,311,698...4,314,773
Ensembl chr 9:4,311,683...4,314,483

G

spindlin interactor and repressor of chromatin binding

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,169,242...53,185,017
Ensembl chr18:53,174,021...53,185,370

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

sprouty RTK signaling antagonist 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:123,436,201...123,624,816
Ensembl chr X:123,620,920...123,621,786

G

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

treatment

NCBI chr34:19,497,577...19,589,125
Ensembl chr34:19,497,922...19,586,427

G

stress induced phosphoprotein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,854,262...52,868,187
Ensembl chr18:52,854,663...52,868,478

G

stathmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:74,035,462...74,043,352
Ensembl chr 2:74,035,457...74,043,349

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:41,894,623...41,907,854
Ensembl chr X:41,893,045...41,906,403

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388

G

synoviolin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,061,284...52,068,672
Ensembl chr18:52,060,347...52,067,582

G

transcription activation suppressor

ClinVar Annotator: match by term: Ependymoma

NCBI chr20:33,665,231...33,713,264
Ensembl chr20:33,646,000...33,712,936

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:18021753 PMID:19578367

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

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242

G

tigger transposable element derived 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,827,870...51,829,746
Ensembl chr18:51,828,247...51,829,665

G

transmembrane 7 superfamily member 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390

G

tenascin C

protein:increased expression:brain

NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281

G

tumor necrosis factor

treatment

CTD Direct Evidence: marker/mechanism

PMID:11810046 PMID:22199285

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

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

PMID:16820965 PMID:19229339

NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496

G

tumor protein p53

ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma

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

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

G

TNF receptor associated factor 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645

G

tripartite motif containing 29

CTD Direct Evidence: marker/mechanism

NCBI chr 5:13,853,514...13,880,517
Ensembl chr 5:13,853,553...13,880,073

G

tRNA methyltransferase activator subunit 11-2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,754,379...52,755,596
Ensembl chr18:52,754,721...52,755,730

G

transient receptor potential cation channel subfamily M member 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:37,860,730...37,949,108
Ensembl chr 3:37,817,339...37,949,108

G

tRNA phosphotransferase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,830,701...52,834,011
Ensembl chr18:52,831,405...52,833,998

G

transient receptor potential cation channel subfamily V member 4

CTD Direct Evidence: marker/mechanism

NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165

G

TSC complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206

G

VHL binding protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:123,210,965...123,231,847
Ensembl chr X:123,203,722...123,231,091

G

vascular endothelial growth factor B

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,821,348...52,824,649
Ensembl chr18:52,821,365...52,824,655

G

VPS51 subunit of GARP complex

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,083,896...52,106,129
Ensembl chr18:52,083,884...52,106,046

G

XIAP associated factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:30,626,356...30,636,731
Ensembl chr 5:30,626,356...30,637,130
Ensembl chr 5:30,626,356...30,637,130

G

X-box binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:22,162,675...22,168,149
Ensembl chr26:22,163,222...22,168,105

G

X-ray repair cross complementing 1

susceptibility

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

PMID:23534771 PMID:25227852

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

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

G

YEATS domain containing 4

NCBI chr10:11,364,435...11,382,340
Ensembl chr10:11,364,553...11,382,645

G

zinc finger protein like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,110,956...52,114,993
Ensembl chr18:52,110,962...52,114,480

G

zinc finger translocation associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,233,537...53,236,899
Ensembl chr18:53,196,955...53,236,479

G

zinc finger HIT-type containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,077,925...52,079,227
Ensembl chr18:52,077,991...52,079,184

G

zinc ribbon domain containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,634,946...51,636,330
Ensembl chr18:51,634,892...51,637,087

high-grade astrocytoma with piloid features

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protection of telomeres 1

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

PMID:25741868 PMID:28492532 PMID:32155570

NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956

Hirschsprung Disease Ganglioneuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeobox 2B

ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma

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

NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854

histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

killer cell lectin like receptor K1

treatment

NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882

Hyperparathyroidism 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,3-galactosyltransferase 2

ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

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

G

cell division cycle 73

ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More...

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

IDH-mutant anaplastic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

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

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

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

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

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

G

epithelial cell adhesion molecule

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr10:49,446,165...49,498,690
Ensembl chr10:49,485,746...49,498,475

G

neurofibromin 1

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

PMID:25741868 PMID:28492532

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

G

RAD54 like

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr15:14,111,168...14,139,819
Ensembl chr15:14,111,157...14,139,301

infant-type hemispheric glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 DNA repair associated

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

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

NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494

Infantile Capillary Hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 1

susceptibility

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:18931684 PMID:25741868 PMID:28492532

NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127

G

cyclin H

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:25741868 PMID:28492532

NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045

G

fms related receptor tyrosine kinase 4

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:11807987 PMID:25741868 PMID:28492532

NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165

G

kinase insert domain receptor

susceptibility

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868

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

G

myosin heavy chain 9

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757

G

solute carrier family 2 member 1

NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140

G

vascular endothelial growth factor A

disease_progression

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

infantile myofibromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile

PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More...

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

Infantile Myofibromatosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

ClinVar Annotator: match by term: Myofibromatosis, infantile, 1

NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Myofibromatosis, infantile, 1

PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 More...

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

Infantile Myofibromatosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

ClinVar Annotator: match by term: Myofibromatosis, infantile, 2

PMID:3484396 PMID:8878478 PMID:9388399 PMID:11102981 PMID:11755616 More...

NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219

JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear factor of activated T cells 2

NCBI chr24:37,606,977...37,734,813
Ensembl chr24:37,609,561...37,771,132

Kaposi's sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain PHD finger transcription factor

ClinVar Annotator: match by term: Kaposi sarcoma

NCBI chr 9:12,586,107...12,703,296
Ensembl chr 9:12,590,333...12,703,422

G

fibroblast growth factor receptor 2

mRNA:increased expression:zone of skin (human)

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

interleukin 6

ClinVar Annotator: match by term: Kaposi's sarcoma

PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More...

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

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

treatment

NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141

Kaposiform Hemangioendothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 2

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Kaposiform hemangioendothelioma

PMID:25741868 PMID:27476652

NCBI chr 1:80,992,992...81,178,362
Ensembl chr 1:80,992,863...81,177,674

kidney angiomyolipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mechanistic target of rapamycin kinase

treatment

associated with Tuberous Sclerosis

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

Kniest Like Dysplasia Lethal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Lethal Kniest-like syndrome

PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More...

NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724

G

low density lipoprotein receptor class A domain containing 2

ClinVar Annotator: match by term: Lethal Kniest-like syndrome

PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126

liposarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase 4

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:20601955 PMID:23569312

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

G

fatty acid synthase

CTD Direct Evidence: therapeutic

NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092

G

FUS RNA binding protein

NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178

G

microRNA mir-155

disease_progression

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

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

YEATS domain containing 4

CTD Direct Evidence: therapeutic

NCBI chr10:11,364,435...11,382,340
Ensembl chr10:11,364,553...11,382,645

localized osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin G1

treatment

human cells in mouse model

NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211

lymphangioleiomyomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase short chain family member 2

protein:increased expression:lung (human)

NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651

G

carnitine palmitoyltransferase 1A

protein:increased expression:lung (human)

NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117

G

estrogen receptor 1

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

glyceraldehyde-3-phosphate dehydrogenase

protein:increased expression:lung (human)

NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385

G

glutaminase

protein:increased expression:lung (human)

NCBI chr37:1,433,640...1,508,347
Ensembl chr37:1,433,398...1,508,146

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:72,535,539...72,553,531
Ensembl chr 8:72,535,107...72,550,322

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

treatment

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 9

protein:increased expression:serum, plasma

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

nitric oxide synthase 3

protein:increased expression:lung

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

nth like DNA glycosylase 1

ClinVar Annotator: match by term: Lymphangiomyomatosis

PMID:25741868 PMID:28492532

NCBI chr 6:38,899,144...38,904,637
Ensembl chr 6:38,899,126...38,905,622

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Lymphangiomyomatosis

NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503

G

pyruvate kinase M1/2

CTD Direct Evidence: marker/mechanism

NCBI chr30:35,712,853...35,737,643

G

RPTOR independent companion of MTOR complex 2

protein:increased expression:lung (human)

NCBI chr 4:69,903,393...70,013,168
Ensembl chr 4:69,936,379...70,010,566

G

solute carrier family 16 member 1

protein:increased expression:lung (human)

NCBI chr17:62,636,600...62,690,491
Ensembl chr17:62,622,902...62,787,481

G

serum response factor

NCBI chr12:11,664,441...11,673,846
Ensembl chr12:11,664,527...11,671,533

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:lung

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:lung

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

G

TSC complex subunit 1

ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis

PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More...

NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677

G

TSC complex subunit 2

ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis

PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More...

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

G

vascular endothelial growth factor D

CTD Direct Evidence: marker/mechanism

NCBI chr X:11,590,097...11,627,199
Ensembl chr X:11,590,089...11,626,486

malignant astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652

G

adhesion G protein-coupled receptor B1

severity

NCBI chr13:36,627,791...36,649,013
Ensembl chr13:36,614,498...36,690,936

G

AKT serine/threonine kinase 1

disease_progression

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

G

AKT serine/threonine kinase 2

severity

NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131

G

AKT serine/threonine kinase 3

severity

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

G

annexin A1

associated with Tuberous Sclerosis;mRNA:increased expression:brain

NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chr24:34,713,390...34,731,461
NCBI chr X:51,969,785...52,167,450
Ensembl chr X:51,969,785...52,151,912

G

ATRX chromatin remodeler

disease_progression
severity

PMID:23765250 PMID:24810474

RGD:11040585 RGD:9586026

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

G

B-Raf proto-oncogene, serine/threonine kinase

onset

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

PMID:19794125 PMID:23817572 PMID:25346165

RGD:11069832 RGD:11567238

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

G

bromodomain containing 7

severity

protein:increased expression:brain:

NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799

G

bone marrow stromal cell antigen 2

severity

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

G

cell adhesion molecule 2

severity

protein:decreased expression:brain

NCBI chr31:1,872,005...2,931,942
Ensembl chr31:1,879,585...2,931,452

G

calcium/calmodulin dependent protein kinase II gamma

disease_progression

NCBI chr 4:24,244,063...24,299,362
Ensembl chr 4:24,245,960...24,299,357

G

cyclin D1

severity

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

G

delta like canonical Notch ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:113,737,662...113,745,936

G

docking protein 2

disease_progression

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

NCBI chr25:35,328,767...35,338,712
Ensembl chr25:35,334,176...35,339,175

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

far upstream element binding protein 1

mRNA:increased expression:brain (human)

NCBI chr 6:68,923,215...68,963,766

G

G3BP stress granule assembly factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:57,541,627...57,585,375
Ensembl chr 4:57,481,908...57,585,241

G

glutathione S-transferase pi 1

susceptibility

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

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

hes related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,630,656...64,646,546

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

interleukin 16

protein:increased expression:brain

NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104

G

KIAA1549

CTD Direct Evidence: marker/mechanism

NCBI chr16:9,681,889...9,839,844
Ensembl chr16:9,696,913...9,834,548

G

KRAS proto-oncogene, GTPase

susceptibility

sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R
DNA:mutation:cds:p.G12D(mouse)
CTD Direct Evidence: marker/mechanism

PMID:16247081 PMID:23817572 PMID:24038521

RGD:13702858 RGD:1600476

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

G

large tumor suppressor kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609

G

large tumor suppressor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:17,110,620...17,169,826
Ensembl chr25:17,110,637...17,169,291

G

mitogen-activated protein kinase kinase 3

protein:increased expression, increased phosphorylation:brain

NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

MRE11 homolog, double strand break repair nuclease

severity

mRNA:decreased expression:brain tumor (human)

NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

Ensembl chr24:34,585,305...34,728,674
Ensembl chr24:34,585,305...34,728,674

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382

G

NEDD8 ubiquitin like modifier

NCBI chr 8:4,202,621...4,213,090
Ensembl chr 8:4,202,621...4,213,049

G

neurofibromin 1

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

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

RGD:12743656 RGD:1302542

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

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032

G

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

protein:decreased expression,decreased activity:brain:

NCBI chr 1:40,494,441...40,539,453
Ensembl chr 1:40,494,461...40,538,937

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Astrocytic tumor

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

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

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

TIA1 cytotoxic granule associated RNA binding protein like 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:29,729,246...29,750,703
Ensembl chr28:29,731,950...29,750,229

G

tumor protein p53

susceptibility

DNA:nonsense mutation:cds:
ClinVar Annotator: match by term: Malignant astrocytoma

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

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

malignant fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PPARG coactivator 1 alpha

treatment

human cell line in mouse model

NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269

G

RecQ like helicase 4

ClinVar Annotator: match by term: Malignant fibrous histiocytoma

PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778

NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753

malignant pleural mesothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated protein 1

disease_progression

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

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:pleura, lung (human)

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

G

baculoviral IAP repeat containing 7

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr24:46,950,700...46,956,375
Ensembl chr24:46,952,474...46,955,495

G

cholinergic receptor nicotinic alpha 7 subunit

ameliorates

NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399

G

colony stimulating factor 1 receptor

mRNA:increased expression:peritoneum�� (human)

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

G

empty spiracles homeobox 2

exacerbates

mRNA:decreased expression:mesothelium of pleural cavity (human)

NCBI chr28:28,002,966...28,009,955
Ensembl chr28:28,003,710...28,009,035

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

mRNA, protein:increased expression:pleura

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

interleukin 7 receptor

disease_progression

NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300

G

lysine demethylase 6A

mRNA:increased expression:mesothelium of pleural cavity (human)

NCBI chr X:38,745,854...38,964,029
Ensembl chr X:38,745,854...38,959,842

G

microRNA mir-192

miRNA:decreased expression:pleura (human)

NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193

G

microRNA mir-193a

miRNA:decreased expression:pleura (human)

NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542

G

microRNA mir-200b

miRNA:decreased expression:pleura (human)

NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479

G

mutL homolog 1

disease_progression

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

nuclear receptor coactivator 2

ameliorates

protein:increased expression:mesothelium of pleural cavity (human)

NCBI chr29:19,253,849...19,471,640
Ensembl chr29:19,222,842...19,545,371

G

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

disease_progression

DNA:loss of heterozygosity

PMID:26493618 PMID:26928227 PMID:27378628

RGD:11553131 RGD:150429647 RGD:150530638

NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196

G

RAD21 cohesin complex component

NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035

G

SET domain containing 2, histone lysine methyltransferase

disease_progression

DNA:mutations:CDS:multiple (human)

PMID:26928227 PMID:33691361

RGD:150429647 RGD:150520202

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

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:pleura

PMID:22199264 PMID:24912849

RGD:151361201 RGD:151660330

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

smoothened, frizzled class receptor

disease_progression

DNA:missense mutations

PMID:23379358 PMID:33209614

RGD:150521620 RGD:150521621

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

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr X:95,300,234...95,356,103
Ensembl chr X:95,331,827...95,351,582

mast-cell leukemia

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: Mast cell leukemia

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

mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box F1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935

G

interleukin 13

DNA:SNP:promoter:-1112C>T (rs1800925) (human)

NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388

G

interleukin 2 receptor subunit beta

NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775

G

interleukin 4 receptor

NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291

G

interleukin 5 receptor subunit alpha

NCBI chr20:14,309,805...14,349,433
Ensembl chr20:14,314,227...14,343,793

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis

PMID:7529964 PMID:8589724 PMID:10554798 PMID:11380399 PMID:15790786 More...

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

medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 3

ClinVar Annotator: match by term: Classic medulloblastoma

NCBI chr 4:12,166,275...12,827,175
Ensembl chr 4:12,167,550...12,827,037

G

APC regulator of WNT signaling pathway

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

PMID:7661930 PMID:17238184

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

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Medulloblastoma

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

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104

G

atonal bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406

G

BRCA1 associated protein 1

ClinVar Annotator: match by term: Medulloblastoma

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

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

G

BRCA2 DNA repair associated

susceptibility

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

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

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

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029

G

bromodomain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:50,290,488...50,322,243
Ensembl chr 9:50,288,240...50,322,127

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:24231268 PMID:31594641

NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608

G

cyclin D1

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

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649

G

cyclin dependent kinase 6

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:16314645 PMID:19270706 PMID:23138228

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

G

cyclin dependent kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,615,271...55,619,493
Ensembl chr 9:55,615,827...55,620,236

G

CREB binding protein

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

catenin beta 1

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

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

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

G

DEAD-box helicase 3 X-linked

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr X:35,759,367...35,789,759
Ensembl chr X:35,759,416...35,789,774

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Medulloblastoma

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

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828

G

elongator acetyltransferase complex subunit 1

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

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

NCBI chr11:64,035,667...64,094,402
Ensembl chr11:64,037,506...64,093,819

G

E1A binding protein p300

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

estrogen receptor 2

CTD Direct Evidence: therapeutic

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

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

G

forkhead box O3

ClinVar Annotator: match by term: Medulloblastoma

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

G

G protein-coupled receptor 161

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr 7:30,364,999...30,411,038
Ensembl chr 7:30,366,068...30,407,268

G

HIC ZBTB transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:46,156,909...46,162,849
Ensembl chr 9:46,159,136...46,162,004

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

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

G

insulin receptor substrate 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252

G

lysine demethylase 4B

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

NCBI chr20:54,713,900...54,843,991
Ensembl chr20:54,634,121...54,820,816

G

lysine demethylase 4C

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

NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801

G

L3MBTL histone methyl-lysine binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:24,000,008...24,021,883
Ensembl chr10:24,002,183...24,021,753

G

L3MBTL histone methyl-lysine binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:68,538,014...68,655,173
Ensembl chr 1:68,540,051...68,654,414

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:31694585

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

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,975,757...3,019,313
Ensembl chr15:3,006,409...3,013,381

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr17:11,720,857...11,724,308

G

non-POU domain containing octamer binding

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

NCBI chr X:55,618,032...55,632,237
Ensembl chr X:55,618,095...55,631,388

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

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

G

orthodenticle homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:32,435,169...32,445,093
Ensembl chr 8:32,435,863...32,445,446

G

platelet derived growth factor receptor alpha

severity

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:25576913

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

G

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

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

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

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

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141

G

PRAME nuclear receptor transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Medulloblastoma

PMID:26822237 PMID:28492532

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

G

protein arginine methyltransferase 5

CTD Direct Evidence: therapeutic

NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456

G

patched 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:16301862 PMID:16419085 PMID:22952776 PMID:25741868 PMID:28492532

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

patched 2

NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234

G

Ras association domain family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:28492532

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

G

ret proto-oncogene

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

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

G

S100 calcium binding protein A10

CTD Direct Evidence: marker/mechanism

NCBI chr17:60,984,138...60,994,915

G

S100 calcium binding protein A4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:43,494,007...43,496,021

G

S100 calcium binding protein A6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604

G

secretogranin V

CTD Direct Evidence: marker/mechanism

NCBI chr30:2,261,144...2,315,315
Ensembl chr30:2,261,189...2,315,213

G

Scm polycomb group protein like 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,334,769...14,436,614
Ensembl chr X:14,335,013...14,437,176

G

splicing factor 3b subunit 2

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354

G

S-phase kinase associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307

G

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

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836

G

smoothened, frizzled class receptor

treatment

ClinVar Annotator: match by term: Medulloblastoma

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

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

G

SET and MYND domain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,904,089...45,958,466
Ensembl chr 9:45,902,648...45,957,334

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

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

G

STE20 related adaptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:11,684,905...11,712,515
Ensembl chr 9:11,684,663...11,712,432

G

SUFU negative regulator of hedgehog signaling

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

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

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

G

tumor protein p53

disease_progression

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

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

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

G

TSC complex subunit 2

DNA:polymorphism:intron

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

G

tubulin beta 4A class IVa

ClinVar Annotator: match by term: Classic medulloblastoma

NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:53,482,239...53,532,399
Ensembl chr20:53,482,498...53,531,296

G

WRN RecQ like helicase

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr16:33,164,662...33,304,466
Ensembl chr16:33,167,364...33,304,625

Megalencephaly-Polydactyly Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome

PMID:25741868 PMID:30573562 PMID:37710961

NCBI chr17:11,720,857...11,724,308

melanoma and neural system tumor syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome

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

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

mesenchymal chondrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

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

G

CD99 molecule

CTD Direct Evidence: marker/mechanism

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

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

marker of proliferation Ki-67

CTD Direct Evidence: marker/mechanism

NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism

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

metachondromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Metachondromatosis

PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More...

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

G

ribosomal protein L6

ClinVar Annotator: match by term: Metachondromatosis

NCBI chr26:9,970,416...9,975,897

mixed glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

susceptibility

DNA:SNPs:multiple:multiple (human)

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

Multiple Exostoses Type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

exostosin glycosyltransferase 1

ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I

PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More...

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

G

exostosin glycosyltransferase 2

ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I

PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974

Multiple Exostoses Type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

exostosin glycosyltransferase 2

ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2

PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More...

NCBI chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974

Multiple Fibroadenomas of the Breast

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prolactin receptor

ClinVar Annotator: match by term: Multiple fibroadenomas of the breast

PMID:18779591 PMID:25741868

NCBI chr 4:73,147,919...73,280,970
Ensembl chr 4:73,110,858...73,273,916

Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal

PMID:3152525 PMID:3152526 PMID:12522257 PMID:14645423 PMID:14699510 More...

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

myxoid liposarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA damage inducible transcript 3

CTD Direct Evidence: marker/mechanism
DNA:translocation: ;t(12;16)(q13;p11)

PMID:1283316 PMID:7503811 PMID:8510758

NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303

G

FUS RNA binding protein

CTD Direct Evidence: marker/mechanism

PMID:7503811 PMID:8510758

NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178

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

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

neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility

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

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

G

arachidonate 5-lipoxygenase activating protein

mRNA, protein:increased expression:neuroblastoma (human)

NCBI chr25:9,320,868...9,351,056
Ensembl chr25:9,320,864...9,351,836

G

AT-rich interaction domain 1A

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

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

G

AT-rich interaction domain 1B

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

NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

PMID:23334666 PMID:26523776

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

G

aurora kinase A

CTD Direct Evidence: marker/mechanism

NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791

G

BRCA1 associated RING domain 1

CTD Direct Evidence: marker/mechanism

PMID:19412175 PMID:23334666

NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583

G

baculoviral IAP repeat containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

G

baculoviral IAP repeat containing 3

CTD Direct Evidence: marker/mechanism

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

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Neuroblastoma

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

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

G

CD44 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107

G

CD55 molecule

NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226

G

cyclin dependent kinase inhibitor 2A

treatment

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:24714808

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

chromatin assembly factor 1 subunit A

disease_progression

mRNA:increased expression: :

NCBI chr20:55,248,286...55,276,425
Ensembl chr20:55,248,288...55,276,900

G

chromodomain helicase DNA binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,022,451...60,080,663
Ensembl chr 5:60,025,602...60,081,148

G

chromodomain helicase DNA binding protein 6

CTD Direct Evidence: marker/mechanism

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

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

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

G

dopamine beta-hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130

G

dedicator of cytokinesis 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:89,152,456...89,379,203
Ensembl chr 1:89,150,856...89,378,013

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

FA complementation group A

ClinVar Annotator: match by term: Neuroblastoma

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

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

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Neuroblastoma

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

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Neuroblastoma

PMID:26822237 PMID:28492532

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

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657

G

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:62,231,642...62,337,242
Ensembl chr12:62,227,078...62,337,183

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:24,140,496...24,143,143
Ensembl chr25:24,141,243...24,152,958

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:26121086

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

G

interferon beta 1

CTD Direct Evidence: therapeutic

NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855

G

insulin like growth factor 1 receptor

protein: decreased tyrosine phosphorylation: : Y1131

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

insulin like growth factor 2 mRNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:25,199,287...25,240,693
Ensembl chr 9:25,198,805...25,240,578

G

interleukin 18

susceptibility

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

ISL LIM homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183

G

kinesin family member 1B

susceptibility

ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1

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

NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

lin-28 homolog B

CTD Direct Evidence: marker/mechanism

PMID:22941191 PMID:23042116

NCBI chr12:62,403,831...62,529,435
Ensembl chr12:62,403,333...62,524,838

G

mitogen-activated protein kinase kinase 4

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296

G

mitogen-activated protein kinase kinase 7

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr20:52,594,450...52,604,236
Ensembl chr20:52,594,536...52,602,150

G

menin 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

mitochondrially encoded cytochrome c oxidase II

CTD Direct Evidence: marker/mechanism

NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717

G

mitochondrial fission process 1

severity

mRNA:increased expression:neural tissue (human)

NCBI chr26:23,565,438...23,568,919
Ensembl chr26:23,565,567...23,568,510

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969

G

MYC proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Neuroblastoma

PMID:25157968 PMID:26619011

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

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr17:11,720,857...11,724,308

G

non-metastatic cells 1, protein (NM23A) expressed in

NCBI chr 9:26,990,336...26,998,895
Ensembl chr 9:26,990,469...26,998,955

G

neuronatin

CTD Direct Evidence: marker/mechanism

NCBI chr24:26,119,153...26,121,573
Ensembl chr24:26,118,991...26,120,906

G

nodal growth differentiation factor

mRNA:increased expression:neural tissue (human)

NCBI chr 4:21,366,828...21,374,623
Ensembl chr 4:21,367,583...21,375,151

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Neuroblastoma

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

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

G

nuclear receptor binding SET domain protein 1

severity

DNA:hypermethylation:promoter:CpG islands (human)

NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999

G

5'-nucleotidase ecto

CTD Direct Evidence: therapeutic

NCBI chr12:45,491,028...45,520,019
Ensembl chr12:45,491,733...45,518,405

G

neurotrophic receptor tyrosine kinase 1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:8433391 PMID:16989911

NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288

G

neurotrophic receptor tyrosine kinase 2

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032

G

p21 (RAC1) activated kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:114,009,573...114,052,100
Ensembl chr 1:114,009,711...114,018,191

G

platelet and endothelial cell adhesion molecule 1

human tumor in mouse model

NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778

G

PHD finger protein 6

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr X:105,044,232...105,093,663
Ensembl chr X:105,043,556...105,091,795

G

paired like homeobox 2B

exacerbates

human cell line in a mouse model
ClinVar Annotator: match by term: Neuroblastoma

NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854

G

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

ClinVar Annotator: match by term: Neuroblastoma

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

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

G

PTEN induced kinase 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123

G

PRAME nuclear receptor transcriptional regulator

severity

mRNA:increased expression:neural tissue (human)

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

proteasome 26S subunit, non-ATPase 14

CTD Direct Evidence: marker/mechanism

NCBI chr36:6,883,612...6,985,291
Ensembl chr36:6,889,622...6,984,974

G

patched 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:25741868 PMID:28492532

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Neuroblastoma

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

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

G

protein tyrosine phosphatase non-receptor type 14

CTD Direct Evidence: marker/mechanism

NCBI chr 7:12,335,327...12,454,992
Ensembl chr 7:12,342,277...12,486,204

G

Ras association domain family member 5

CTD Direct Evidence: marker/mechanism

NCBI chr38:2,783,049...2,849,188
Ensembl chr38:2,783,122...2,847,909

G

RNA binding motif protein 15

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 6:41,645,765...41,653,621
Ensembl chr 6:41,645,769...41,653,799

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

sodium channel epithelial 1 subunit alpha

disease_progression

Low levels of methylation correlate with improved survival

NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Neuroblastoma

PMID:21979946 PMID:25741868 PMID:28492532

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

G

semaphorin 3B

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,058,708...39,067,277
Ensembl chr20:39,059,245...39,065,661

G

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

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836

G

small nuclear ribonucleoprotein polypeptide E

severity

mRNA:decreased expression:neuroblastoma (human)

NCBI chr38:515,808...521,536
Ensembl chr38:515,860...521,535

G

T-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:35,237,323...35,245,066
Ensembl chr 9:35,235,649...35,245,736

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

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

G

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

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

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060

G

tumor protein p53

ClinVar Annotator: match by term: Neuroblastoma

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

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

G

tumor protein p73

no_association

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

G

TSC complex subunit 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677

G

TSC complex subunit 2

ClinVar Annotator: match by term: Neuroblastoma

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

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

G

zinc finger protein 276

ClinVar Annotator: match by term: Neuroblastoma

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

NCBI chr 5:63,838,818...63,857,742
Ensembl chr 5:63,838,987...63,857,924

Neuroblastoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeobox 2B

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

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

NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854

Neuroblastoma 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

susceptibility

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

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

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

G

CAP-Gly domain containing linker protein family member 4

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

NCBI chr17:22,921,455...23,007,104
Ensembl chr17:22,921,488...23,011,839

G

photoreceptor cilium actin regulator

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

NCBI chr17:22,898,998...22,910,639
Ensembl chr17:22,898,998...22,910,639

G

TOG array regulator of axonemal microtubules 2

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

NCBI chr17:22,829,957...22,913,565
Ensembl chr17:22,849,467...22,892,447

G

WD repeat domain 43

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

NCBI chr17:22,769,281...22,813,559
Ensembl chr17:22,769,318...22,812,199

neurofibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

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

G

MAX interactor 1, dimerization protein

ClinVar Annotator: match by term: Neurofibrosarcoma

NCBI chr28:21,584,856...21,655,233
Ensembl chr28:21,584,638...21,652,920

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

vascular endothelial growth factor A

protein:increased expression:peripheral nerve

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

Odontogenic Myxoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

DNA:hypomethylation:promotor:

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

olfactory neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hypoxia inducible factor 1 subunit alpha

severity

protein:increased expression:neuroblastoma (human)

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

oligodendroglioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Oligodendroglioma

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

G

calcium/calmodulin dependent protein kinase II beta

disease_progression

G

capicua transcriptional repressor

ClinVar Annotator: match by term: Oligodendroglioma

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

G

deltex E3 ubiquitin ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:10,469,850...10,502,682

G

epidermal growth factor

susceptibility

DNA:polymorphism:promoter:GG genotypes were associated with increased risk.

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

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

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Oligodendroglioma

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:21446021 More...

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

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

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

prostaglandin E synthase 3

protein:increased expression:brain cortex, white matter (human)

NCBI chr10:885,744...903,814
Ensembl chr10:870,392...909,161

G

RB transcriptional corepressor 1

disease_progression

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

optic nerve glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALX homeobox 4

ClinVar Annotator: match by term: Optic nerve glioma

NCBI chr18:44,922,042...44,967,557
Ensembl chr18:44,922,150...44,967,550

G

C-X3-C motif chemokine receptor 1

onset

associated with Neurofibromatosis 1

NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808

G

neurofibromin 1

susceptibility

associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma

PMID:10712197 PMID:16199547 PMID:21278392 PMID:23913538 PMID:25741868 More...

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

ossifying fibroma

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: Ossifying fibroma of the jaw

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

Osteochondroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase non-receptor type 11

CTD Direct Evidence: marker/mechanism

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

osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 12

mRNA,protein:decreased expression:osteoblast:

NCBI chr 1:41,614,893...41,712,350
Ensembl chr 1:41,614,714...41,709,798

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Osteosarcoma, somatic

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: Osteosarcoma, somatic

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

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

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613

G

BRCA2 DNA repair associated

DNA:nonsense mutation

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

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608

G

Cbl proto-oncogene

protein:decreased expression:bone

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

cyclin B3

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,951,030...43,041,616
Ensembl chr X:42,949,558...43,012,122

G

cell division cycle 5 like

DNA:amplification:cds (human)

NCBI chr12:12,779,936...12,822,978
Ensembl chr12:12,780,010...12,822,801

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Osteoblastic osteosarcoma

PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More...

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

checkpoint kinase 2

ClinVar Annotator: match by term: Osteosarcoma, somatic

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

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

DNA:deletion (rat)

NCBI chr 1:31,522,911...31,525,342
Ensembl chr 1:31,523,799...31,524,995

G

C-X-C motif chemokine receptor 4

ameliorates

human cells in mouse model

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

cytochrome P450, family 3, subfamily A, polypeptide 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352

G

discoidin domain receptor tyrosine kinase 1

severity

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

NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543

G

dihydrofolate reductase

CTD Direct Evidence: marker/mechanism

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

G

EGF containing fibulin extracellular matrix protein 2

exacerbates

human EFEMP2 knockdown cell line in a mouse model

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

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

early growth response 1

mRNA:decreased expression:tumor (human)

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

G

eukaryotic translation initiation factor 2 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,354,400...41,371,676
Ensembl chr 8:41,351,244...41,371,056

G

ERCC excision repair 1, endonuclease non-catalytic subunit

severity

DNA:silent mutation:cds:p.N118N (human)

NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602

G

estrogen related receptor alpha

CTD Direct Evidence: marker/mechanism

PMID:24967384 PMID:34524571

NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:14767549 PMID:26265454

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

glutamate metabotropic receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,346,395...3,459,722
Ensembl chr12:3,346,395...3,459,878

G

glutathione S-transferase mu 3

NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

histone deacetylase 6

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427

G

hydroxysteroid 17-beta dehydrogenase 10

treatment

NCBI chr X:45,165,272...45,167,683
Ensembl chr X:45,165,272...45,167,574

G

interleukin 3

NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668

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 voltage-gated channel subfamily H member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,317,804...9,631,144
Ensembl chr 7:9,252,488...9,631,150

G

folate receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr21:25,944,350...25,951,010

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819

G

leucine zipper and CTNNBIP1 domain containing

NCBI chr 5:63,110,854...63,122,488
Ensembl chr 5:63,113,191...63,122,750

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

microRNA mir-106b

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,498,558...9,498,616
Ensembl chr 6:9,498,558...9,498,616

G

microRNA mir-302b

CTD Direct Evidence: therapeutic

NCBI chr32:32,429,500...32,429,574
Ensembl chr32:32,429,500...32,429,574

G

microRNA mir-494

severity
ameliorates

NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465

G

microRNA mir-93

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,498,780...9,498,840

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mutS homolog 2

disease_progression

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

mutS homolog 6

disease_progression

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

G

macrophage stimulating 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,386,970...39,400,780
Ensembl chr20:39,387,322...39,400,588

G

methylenetetrahydrofolate reductase

treatment

DNA:transition:cds:g.677C>T (human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:34508303

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

G

N-terminal EF-hand calcium binding protein 3

severity

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

NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656

G

nuclear receptor subfamily 1 group I member 2

CTD Direct Evidence: marker/mechanism

NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347

G

pleckstrin homology like domain family A member 2

CTD Direct Evidence: therapeutic

G

PRAME nuclear receptor transcriptional regulator

severity

mRNA:increased expression:muscle tissue (human)

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

peroxiredoxin 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682

G

polypyrimidine tract binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:57,806,450...57,818,435
Ensembl chr20:57,807,826...57,818,359

G

parathyroid hormone

human protein in rat model

NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967

G

protein tyrosine phosphatase receptor type B

disease_progression

mRNA:decreased expression:bone (human)

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

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Osteosarcoma, somatic

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

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

G

replication factor C subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096

G

regulator of G protein signaling 1

CTD Direct Evidence: marker/mechanism

NCBI chr38:6,372,451...6,376,427
Ensembl chr38:6,372,558...6,376,315

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:25307878

NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785

G

serpin family F member 1

treatment

human gene in rat model
human protein in a mouse model

PMID:17458711 PMID:17479108

RGD:8633656 RGD:8655561

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr34:14,853,000...14,855,153

G

TATA-box binding protein associated factor 15

CTD Direct Evidence: marker/mechanism

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

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

CTD Direct Evidence: marker/mechanism

NCBI chr11:49,809,156...49,821,224
Ensembl chr11:49,809,465...49,821,075

G

tumor protein p53

ClinVar Annotator: match by term: Osteosarcoma, somatic

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

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

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

G

zinc finger MIZ-type containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:28,807,368...29,035,946
Ensembl chr 4:28,854,908...29,045,986

G

zw10 kinetochore protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:19,496,531...19,527,205
Ensembl chr 5:19,496,611...19,527,200

peripheral osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RecQ like helicase 4

ClinVar Annotator: match by term: High grade surface osteosarcoma

PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More...

NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753

PERITONEAL GLIOMATOSIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc fragment of IgG receptor Ia

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr17:59,073,139...59,102,023
Ensembl chr17:59,092,933...59,102,015

G

H2B clustered histone 18

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr17:59,120,297...59,121,083

G

MHC class II DLA DRB1 beta chain

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr12:2,151,409...2,164,564

pilocytic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

folliculin

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532

NCBI chr 5:42,176,093...42,195,718
Ensembl chr 5:42,176,291...42,195,711

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 More...

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

G

neurofibromin 1

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532

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: Pilocytic astrocytoma

PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565

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

G

ret proto-oncogene

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:25741868 PMID:28492532

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: Pilocytic astrocytoma, somatic

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

pilomyxoid astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Pilomyxoid astrocytoma

PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 More...

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

Primitive Neuroectodermal Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EWS RNA binding protein 1

CTD Direct Evidence: marker/mechanism

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

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

PMS1 homolog 2, mismatch repair system component

CTD Direct Evidence: marker/mechanism

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

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

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

G

TSC complex subunit 1

ClinVar Annotator: match by term: Primitive neuroectodermal tumor

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

NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677

Primitive Peripheral Neuroectodermal Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

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

pulmonary venoocclusive disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis

PMID:18626305 PMID:24292273

NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis

PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More...

NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000

retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell adhesion molecule 2

mRNA, protein:decreased expression:retina

NCBI chr31:1,872,005...2,931,942
Ensembl chr31:1,879,585...2,931,452

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

dicer 1, ribonuclease III

exacerbates

DNA:deletion:haploinsufficiency

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

G

FA complementation group M

ClinVar Annotator: match by term: Retinoblastoma

NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994

G

Fas cell surface death receptor

severity

protein:decreased expression:tumor (human)

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

G

interferon beta 1

ameliorates

NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855

G

integral membrane protein 2B

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

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

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

G

lysine demethylase 1B

mRNA:increased expression:retina (human)

NCBI chr35:16,954,483...17,014,261
Ensembl chr35:16,921,095...17,012,527

G

lysophosphatidic acid receptor 6

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

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

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

G

MYC associated factor X

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr 8:39,441,216...39,465,703
Ensembl chr 8:39,380,686...39,465,959

G

mediator complex subunit 4

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

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

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

G

O-6-methylguanine-DNA methyltransferase

disease_progression

DNA:hypermethylation:promoter (human)

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Retinoblastoma

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

NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539

G

neurofibromin 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

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

G

nudix hydrolase 15

ClinVar Annotator: match by term: Retinoblastoma

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

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

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Retinoblastoma

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

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

G

patched 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

RB transcriptional corepressor 1

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

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

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

G

serpin family F member 1

treatment

human protein and tumor xenograft in a mouse model

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

synuclein gamma

NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842

SM-AHNMD

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

DNA:mutations: :

NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815

Solitary Fibrous Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NGFI-A binding protein 2

CTD Direct Evidence: marker/mechanism

PMID:23313952 PMID:23313954

NCBI chr10:1,226,626...1,232,575
Ensembl chr10:1,226,415...1,231,810

G

signal transducer and activator of transcription 6

CTD Direct Evidence: marker/mechanism

PMID:23313952 PMID:23313954

NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075

Stuve-Wiedemann Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome

PMID:25741868 PMID:28492532

NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724

G

interleukin 6 cytokine family signal transducer

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome

PMID:25741868 PMID:31914175

NCBI chr 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124

G

LIF receptor subunit alpha

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome

PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More...

NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127

Stuve-Wiedemann Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Stüve-Wiedemann syndrome

PMID:25741868 PMID:28492532

NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724

G

LIF receptor subunit alpha

ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1

PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More...

NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127

Stuve-Wiedemann Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 290

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532

NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532

NCBI chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823

G

interleukin 6 cytokine family signal transducer

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532 PMID:31914175

NCBI chr 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532

NCBI chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356

subependymal giant cell astrocytoma

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma

PMID:25741868 PMID:28492532

NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032

subserous uterine fibroid

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393

synovial sarcoma

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

BCL2 apoptosis regulator

CTD Direct Evidence: therapeutic

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

G

putative protein SSX6

CTD Direct Evidence: marker/mechanism

PMID:9428816 PMID:27572315

NCBI chr X:41,676,082...41,687,062

G

SHC binding and spindle associated 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:8,465,366...8,491,085
Ensembl chr15:8,465,409...8,490,214

G

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

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

G

SS18 subunit of BAF chromatin remodeling complex

CTD Direct Evidence: marker/mechanism

PMID:7951320 PMID:9428816 PMID:27572315

NCBI chr 7:62,490,901...62,571,607
Ensembl chr 7:62,475,290...62,570,234

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

systemic mastocytosis

term browser

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Systemic mast cell disease

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

trilateral retinoblastoma

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Trilateral retinoblastoma

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

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

urticaria pigmentosa

term browser

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: MASTOCYTOSIS, MACULOPAPULAR 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

uterine fibroid

term browser

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

adenosine deaminase

susceptibility

DNA:polymorphisms: :

NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160

G

Bet1 golgi vesicular membrane trafficking protein like

DNA:SNP:rs2280543(human)

NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299

G

collagen type IV alpha 1 chain

mRNA:increased expression:uterus (human)

NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666

G

collagen type IV alpha 2 chain

DNA:hypomethylation:uterus (human)

NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297

G

collagen type VI alpha 3 chain

DNA:hypomethylation:uterus (human)

NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402

G

death associated protein kinase 1

DNA:hypermethylation:uterus (human)

NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822

G

distal-less homeobox 3

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736

G

fumarate hydratase

ClinVar Annotator: match by term: Uterine leiomyoma

PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532

NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412

G

high mobility group AT-hook 2

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr10:8,348,101...8,491,435

G

insulin receptor substrate 1

mRNA:increased expression:uterus (human)

NCBI chr25:39,624,554...39,687,991

G

mediator complex subunit 12

ClinVar Annotator: match by term: Uterine leiomyoma

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

G

NUAK family kinase 1

DNA:hypermethylation:uterus (human)

NCBI chr10:32,463,845...32,537,425
Ensembl chr10:32,464,123...32,536,650

G

patched 1

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393

G

TSC complex subunit 2

OMIM:150699

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

uterus interstitial leiomyoma

term browser

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G

BCL2 like 1

associated with Carcinoma, Renal Cell;protein:increased expression:uterus

NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355

von Hippel-Lindau disease

term browser

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258

G

cyclin D1

susceptibility

ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF

PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More...

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

G

endothelial PAS domain protein 1

protein:increased expression:kidney:

NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844

G

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

NCBI chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

onset

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More...

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

G

solute carrier family 18 member A1

mRNA:increased expression:tumor (human)

NCBI chr25:36,859,047...36,904,057
Ensembl chr25:36,872,636...36,904,056

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More...

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

X-linked cardiac valvular dysplasia

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

filamin A

ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked

PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More...

NCBI chr X:122,058,303...122,083,467
Ensembl chr X:122,061,455...122,083,203

Term paths to the root

Path 1
Term	Annotations
disease	17773
disease of anatomical entity	15145
musculoskeletal system disease	7742
connective tissue disease	5279
Connective Tissue Neoplasms	1710
Bone Tissue Neoplasms +	101
Fibrous Tissue Neoplasms +	59
Giant Cell Tumors +	1
Myxoma +	5
Oncogenic Osteomalacia	0
Phosphaturic Mesenchymal Tumor	0
chondroma +	33
clear cell sarcoma +	1
connective tissue benign neoplasm +	67
connective tissue cancer +	763
endometrial stromal tumor +	1
gastrointestinal stromal tumor +	924
mastocytosis +	9
synovial sarcoma +	6

paths to the root