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

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

show annotations for term's descendants Sort by:
Rat (2082) Mouse (2261) Human (32935) Chinchilla (1749) Bonobo (1914) Dog (2094) Squirrel (1777) Pig (1875) Green Monkey (1864) Naked Mole-rat (1729) All
Genes (1914)

Abdominal Fibromatosis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

adenomatoid tumor

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G

TNF receptor associated factor 7

DNA:missense mutations:multiple

NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031

Adult Cerebral Astrocytoma

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matrix metallopeptidase 1

susceptibility

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

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

adult spinal cord ependymoma

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chromodomain helicase DNA binding protein 6

ClinVar Annotator: match by term: Adult spinal cord ependymoma

NCBI chr20:37,744,012...37,953,593
Ensembl chr20:38,839,685...38,999,501

Aggressive Fibromatosis

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RGD Reference(s)

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G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

cellular communication network factor 2

mRNA:increased expression:tumor (human)

NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077

G

catenin beta 1

ClinVar Annotator: match by term: Aggressive fibromatosis

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

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

serpin family E member 1

susceptibility

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

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

AIDS-Related Kaposi Sarcoma

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RGD Reference(s)

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BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

interleukin 32

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

NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929

alveolar rhabdomyosarcoma

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forkhead box O1

ClinVar Annotator: match by term: FOXO1-related condition

PMID:25741868 PMID:28492532

NCBI chr13:21,763,729...21,874,279

G

paired box 3

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma

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

NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874

G

paired box 7

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

PMID:25741868 PMID:31092906 PMID:32214227

NCBI chr 1:17,589,513...17,707,442
Ensembl chr 1:18,639,641...18,756,952

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

G

WW domain containing transcription regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:146,536,564...146,678,847
Ensembl chr 3:154,114,034...154,254,490

alveolar soft part sarcoma

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ASPSCR1 tether for SLC2A4, UBX domain containing

NCBI chr17:76,381,000...76,422,189
Ensembl chr17:82,084,873...82,127,492

ameloblastoma

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B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

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:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

tumor protein p53

ClinVar Annotator: match by term: Astrocytoma, anaplastic

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

ring finger protein 213

ClinVar Annotator: match by term: Anaplastic ependymoma

NCBI chr17:74,688,130...74,823,973
Ensembl chr17:80,421,373...80,556,570

anaplastic oligodendroglioma

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capicua transcriptional repressor

ClinVar Annotator: match by term: Anaplastic oligodendroglioma

NCBI chr19:39,156,204...39,183,498
Ensembl chr19:47,751,520...47,774,699

Angiomatoid Fibrous Histiocytoma

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cAMP responsive element binding protein 1

NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130

angiomyolipoma

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8-oxoguanine DNA glycosylase

no_association

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

PMID:17932460 PMID:19265534

RGD:8657154 RGD:8657155

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

phosphatase and tensin homolog

protein:increased expression:kidney (human)

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

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signal transducer and activator of transcription 1

protein:increased serine phosphorylation:kidney

NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:kidney

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

TSC complex subunit 2

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

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

angiosarcoma

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angiopoietin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,737,006...64,750,353

G

collagen type XVIII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr21:31,720,358...31,834,470

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

fms related receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:9,584,850...9,779,542

G

gap junction protein alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:34,059,901...34,063,181

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:58,042,794...58,045,536

G

potassium calcium-activated channel subfamily N member 4

ameliorates

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

NCBI chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900

G

kinase insert domain receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Angiosarcoma

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

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

mediator complex subunit 12

ClinVar Annotator: match by term: Angiosarcoma

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

MYC proto-oncogene, bHLH transcription factor

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

PMID:17569031 PMID:26440310

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

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phospholipase C gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145

G

protein tyrosine phosphatase receptor type B

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

PMID:24633157 PMID:26440310

RGD:151361292 RGD:151665099

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

G

signal transducer and activator of transcription 3

protein:increased phosphorylation:blood vessel

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

TEK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572

G

tumor protein p53

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

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

vascular endothelial growth factor C

CTD Direct Evidence: marker/mechanism

NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030

astroblastoma

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phosphoinositide-3-kinase regulatory subunit 1

severity

PMID:26286747 PMID:26956052

RGD:11343921 RGD:13782052

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Neuroepithelial neoplasm

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

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

chromosome 9 C11orf65 homolog

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

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

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

G

TSC complex subunit 2

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

PMID:25741868 PMID:28492532

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

atypical teratoid rhabdoid tumor

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ATRX chromatin remodeler

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

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

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

glypican 3

protein:increased expression:brain (human)

NCBI chr X:122,677,072...123,131,511
Ensembl chr X:132,979,612...133,432,441

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Teratoid tumor, atypical

NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921

G

tumor protein p53

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

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

Avian Sarcoma

term browser

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ras homolog family member B

NCBI chr2A:20,433,576...20,435,986
Ensembl chr2A:20,549,254...20,549,844

bone giant cell tumor

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histone H3.3A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447

bone osteosarcoma

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G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More...

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

checkpoint kinase 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More...

NCBI chr22:9,757,038...9,811,171

G

EGF containing fibulin extracellular matrix protein 2

exacerbates
disease_progression

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

PMID:27157136 PMID:28339091

RGD:42722011 RGD:42722013

NCBI chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950

G

ERCC excision repair 2, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:8651278 More...

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

tumor protein p53

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

TSC complex subunit 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:25741868 PMID:26822237

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

Bone Tissue Neoplasms

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glutamate metabotropic receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047

brain glioblastoma multiforme

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eukaryotic translation elongation factor 2

protein:increased expression:brain (human)

NCBI chr19:3,000,608...3,009,918
Ensembl chr19:3,950,772...3,960,172

G

neural cell adhesion molecule 1

disease_progression

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

SUFU negative regulator of hedgehog signaling

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

NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472

brain glioma

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BCL2 associated X, apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

BCL2 apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:brain (human)

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

bone marrow stromal cell antigen 2

mRNA,protein:increased expression:brain:

NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728

G

caspase 3

treatment

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

Fas associated via death domain

treatment

NCBI chr11:65,300,889...65,305,020

G

Fas cell surface death receptor

treatment

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

treatment

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

forkhead box A1

disease_progression

NCBI chr14:18,347,284...18,352,705

G

glyceraldehyde-3-phosphate dehydrogenase

NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729

G

kinase insert domain receptor

protein:increased expression:brain (human)

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

NLR family apoptosis inhibitory protein

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 5:44,345,623...44,401,358
Ensembl chr 5:45,920,125...45,973,937

G

protein tyrosine phosphatase receptor type B

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

PMID:16923162 PMID:33900414

RGD:151660356 RGD:151660368

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

G

vascular endothelial growth factor A

protein:increased expression:brain (human)

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

G

X-ray repair cross complementing 3

susceptibility

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

NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037

brain stem glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 3

mRNA,protein:increased expression:brain stem:

NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874

G

platelet derived growth factor receptor alpha

severity

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

breast angiosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

DNA:mutation:multiple (human)

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

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

DNA:mutation:multiple (human)

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

protein tyrosine phosphatase receptor type B

DNA:mutation:multiple (human)

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

breast fibroadenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 7B

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

Ensembl chr22:44,988,647...45,044,841

capillary hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Capillary hemangioma

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

NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838

G

cellular communication network factor 1

disease_progression

mRNA:increased expression:skin (human)

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Capillary hemangioma

NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623

carcinosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642

Carney complex

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A golgi associated secretory pathway pseudokinase

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

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

NCBI chr17:62,474,317...62,537,800
Ensembl chr17:67,864,331...67,927,128

G

protein kinase cAMP-dependent type I regulatory subunit alpha

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

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

NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

Carney Complex Variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin-8

ClinVar Annotator: match by term: Carney complex variant

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

NCBI chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038

Carney Triad

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

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

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

Ensembl chr 5:356,087...399,923

G

succinate dehydrogenase complex iron sulfur subunit B

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

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

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

succinate dehydrogenase complex subunit C

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

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

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

Carney-Stratakis syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179

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 chr11:106,374,407...106,394,341
Ensembl chr11:110,219,490...110,236,589

G

chromosome 9 C11orf52 homolog

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,805,449...106,813,628
Ensembl chr11:110,649,474...110,657,531

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 chr11:106,764,776...106,772,501
Ensembl chr11:110,608,823...110,614,652

G

crystallin alpha B

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272

G

DIX domain containing 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,813,905...106,908,898
Ensembl chr11:110,657,803...110,753,114

G

dihydrolipoamide S-acetyltransferase

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795

G

ferredoxin-fold anticodon binding domain containing 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,759,471...106,764,721
Ensembl chr11:110,603,654...110,609,074

G

HOATZ cilia and flagella associated protein

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,394,354...106,419,546
Ensembl chr11:110,238,843...110,263,946

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 chr11:106,798,674...106,800,861
Ensembl chr11:110,642,933...110,644,893

G

layilin

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,423,134...106,443,237
Ensembl chr11:110,267,762...110,287,935

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 chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273

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 chr11:106,960,669...106,971,584
Ensembl chr11:110,804,481...110,815,338

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 chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506

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 chr11:106,231,870...106,258,822
Ensembl chr11:110,078,850...110,103,996

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 chr11:106,178,653...106,188,354
Ensembl chr11:110,023,207...110,033,060

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 chr11:106,609,754...106,651,811
Ensembl chr11:110,465,475...110,495,908

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 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

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 chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

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 chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543

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 chr11:106,971,579...106,973,226
Ensembl chr11:110,815,333...110,816,980

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 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:21671394 PMID:22126750 PMID:28492532

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

mutS homolog 3

ClinVar Annotator: match by term: Cavernous sinus meningioma

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

NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469

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 chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

childhood astrocytic tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

ameliorates
susceptibility

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

Ensembl chr20:61,581,331...61,618,718

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 chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

chondroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histone H3.3A

CTD Direct Evidence: marker/mechanism

NCBI chr17:69,728,165...69,730,519
Ensembl chr17:75,277,614...75,281,106

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 chr 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084

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 chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431

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 chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

PMID:22057234 PMID:25895133

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

Indian hedgehog signaling molecule

NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506

G

protein tyrosine phosphatase non-receptor type 11

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

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

smoothened, frizzled class receptor

treatment

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

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 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

collagen type II alpha 1 chain

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

NCBI chr12:40,726,137...40,757,690

G

exostosin glycosyltransferase 1

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

PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:10713884 More...

NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851

G

fibroblast growth factor receptor 3

protein:increased expression:growth plate

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

mechanistic target of rapamycin kinase

disease_progression

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

TATA-box binding protein associated factor 15

extraskeletal myxoid chondrosarcomas (EMC)

NCBI chr17:20,948,186...20,985,925

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 chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903

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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

MN1 proto-oncogene, transcriptional regulator

ClinVar Annotator: match by term: Chordoma

NCBI chr22:8,799,832...8,854,695

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Chordoma

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

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

T-box transcription factor T

CTD Direct Evidence: marker/mechanism

PMID:19801981 PMID:23064415

NCBI chr 6:164,112,117...164,122,253
Ensembl chr 6:169,095,723...169,106,595

choriocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916

G

insulin like growth factor 2

disease_progression

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

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

insulin receptor

disease_progression

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

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

G

TIMP metallopeptidase inhibitor 3

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

NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964

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 chr13:58,166,872...58,176,146
Ensembl chr13:77,211,430...77,222,201

G

ALG11 alpha-1,2-mannosyltransferase

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

NCBI chr13:33,144,708...33,166,033
Ensembl chr13:51,888,738...51,905,894

G

ARF like GTPase 11

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

NCBI chr13:30,767,431...30,770,962
Ensembl chr13:49,518,030...49,518,620

G

ATPase copper transporting beta

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

NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839

G

BORA aurora kinase A activator

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

NCBI chr13:53,956,913...53,985,355
Ensembl chr13:72,733,006...72,761,432

G

chromosome 14 C13orf42 homolog

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

NCBI chr13:32,216,898...32,247,120

G

calcium binding protein 39 like

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

NCBI chr13:30,446,643...30,584,608
Ensembl chr13:49,198,143...49,288,816

G

coiled-coil domain containing 70

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

NCBI chr13:32,991,931...32,997,329
Ensembl chr13:51,741,930...51,742,631

G

cytidine and dCMP deaminase domain containing 1

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

NCBI chr13:30,386,671...30,432,112
Ensembl chr13:49,138,498...49,186,541

G

cytoskeleton associated protein 2

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

NCBI chr13:33,371,744...33,393,483
Ensembl chr13:52,378,278...52,399,608

G

CLN5 intracellular trafficking protein

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

NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759

G

chondromodulin

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

NCBI chr13:33,737,029...33,776,588
Ensembl chr13:52,547,943...52,584,720

G

COMM domain containing 6

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

NCBI chr13:56,752,787...56,764,664
Ensembl chr13:75,526,128...75,537,499

G

cysteinyl leukotriene receptor 2

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

NCBI chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797

G

dachshund family transcription factor 1

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

NCBI chr13:52,666,569...53,098,257

G

dehydrogenase/reductase 12

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

NCBI chr13:32,897,182...32,932,715
Ensembl chr13:51,642,208...51,672,203

G

diaphanous related formin 3

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

NCBI chr13:40,846,270...41,335,920
Ensembl chr13:59,676,307...60,056,672

G

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

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

NCBI chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325

G

deleted in lymphocytic leukemia 7

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

NCBI chr13:31,834,182...31,982,703
Ensembl chr13:50,706,111...50,726,445

G

EBP like

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

NCBI chr13:30,799,832...30,830,670
Ensembl chr13:49,548,230...49,578,820

G

endothelin receptor type B

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

NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286

G

family with sequence similarity 124 member A

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

NCBI chr13:32,356,260...32,418,132
Ensembl chr13:51,101,704...51,163,916

G

F-box and leucine rich repeat protein 3

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

NCBI chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651

G

fibronectin type III domain containing 3A

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

NCBI chr13:30,119,740...30,347,544
Ensembl chr13:48,820,018...49,049,274

G

heterogeneous nuclear ribonucleoprotein A1 like 2

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

NCBI chr13:33,653,693...33,680,196
Ensembl chr13:52,487,132...52,488,093

G

integrator complex subunit 6

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

NCBI chr13:32,487,169...32,583,415
Ensembl chr13:51,242,452...51,327,882

G

integral membrane protein 2B

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

NCBI chr13:29,383,318...29,412,018

G

potassium channel regulator

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

NCBI chr13:31,154,531...31,161,081
Ensembl chr13:49,901,696...49,908,169

G

potassium channel tetramerization domain containing 12

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

NCBI chr13:58,097,764...58,104,972

G

KLF transcription factor 12

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

NCBI chr13:54,916,443...55,535,131
Ensembl chr13:73,697,912...73,996,956

G

KLF transcription factor 5

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

G

kelch like family member 1

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

NCBI chr13:50,906,581...51,335,692
Ensembl chr13:69,691,537...70,118,448

G

karyopherin subunit alpha 3

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

NCBI chr13:30,838,320...30,931,608
Ensembl chr13:49,586,544...49,679,906

G

LIM domain 7

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

NCBI chr13:56,846,724...57,084,178
Ensembl chr13:75,894,529...76,130,080

G

LMO7 downstream neighbor protein

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

NCBI chr13:57,096,039...57,109,497

G

protocadherin-8

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

NCBI chr13:33,880,543...33,886,243
Ensembl chr13:52,688,522...52,692,399

G

putative UPF0607 protein ENSP00000383144

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

NCBI chr13:58,877,777...58,879,200

G

uncharacterized LOC130540719

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

G

lysophosphatidic acid receptor 6

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

NCBI chr13:29,561,219...29,567,414
Ensembl chr13:48,263,254...48,264,291

G

mediator complex subunit 4

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

NCBI chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836

G

motilin receptor

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

NCBI chr13:30,358,092...30,362,419
Ensembl chr13:49,109,918...49,111,850

G

MYC binding protein 2

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

NCBI chr13:58,262,251...58,544,819
Ensembl chr13:77,306,509...77,586,843

G

mitotic spindle organizing protein 1

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

NCBI chr13:53,937,689...53,956,954

G

Nedd4 family interacting protein 2

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

NCBI chr13:60,717,590...60,792,373
Ensembl chr13:79,745,362...79,820,286

G

NIMA related kinase 3

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

NCBI chr13:33,261,186...33,288,316
Ensembl chr13:52,003,518...52,030,212

G

NIMA related kinase 5

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

NCBI chr13:33,166,069...33,260,990
Ensembl chr13:51,938,342...51,998,357

G

nudix hydrolase 15

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

NCBI chr13:29,189,459...29,198,825
Ensembl chr13:47,891,557...47,900,971

G

ORC ubiquitin ligase 1

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

NCBI chr13:59,840,406...59,884,765
Ensembl chr13:78,874,466...78,918,446

G

olfactomedin 4

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

NCBI chr13:34,066,155...34,089,468
Ensembl chr13:52,873,289...52,896,827

G

protocadherin 17

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

NCBI chr13:38,801,514...38,900,811
Ensembl chr13:57,532,850...57,631,725

G

protocadherin 20

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

NCBI chr13:42,582,806...42,588,890
Ensembl chr13:61,300,554...61,318,534

G

protocadherin 9

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

NCBI chr13:47,512,960...48,430,521
Ensembl chr13:66,310,212...67,222,134

G

PHD finger protein 11

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

NCBI chr13:30,636,035...30,670,262
Ensembl chr13:49,386,374...49,419,310

G

progesterone immunomodulatory binding factor 1

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

NCBI chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473

G

POU class 4 homeobox 1

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

NCBI chr13:59,821,614...59,829,671

G

RB transcriptional corepressor 1

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

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

RNA binding motif protein 26

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

NCBI chr13:60,547,197...60,642,551
Ensembl chr13:79,585,632...79,670,999

G

RCC1 and BTB domain containing protein 1

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

NCBI chr13:30,673,230...30,727,480
Ensembl chr13:49,422,283...49,475,857

G

RCC1 and BTB domain containing protein 2

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

NCBI chr13:29,631,741...29,675,959
Ensembl chr13:48,332,860...48,377,336

G

ribonuclease H2 subunit B

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

NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909

G

sciellin

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

NCBI chr13:58,772,893...58,861,813
Ensembl chr13:77,795,230...77,904,016

G

serpin family E member 3

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

NCBI chr13:32,475,429...32,496,700
Ensembl chr13:51,220,735...51,241,791

G

SET domain bifurcated histone lysine methyltransferase 2

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

NCBI chr13:30,584,762...30,635,408
Ensembl chr13:49,335,894...49,386,150

G

SLAIN motif family member 1

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

NCBI chr13:58,914,327...58,981,193

G

SLIT and NTRK like family member 1

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

NCBI chr13:65,081,844...65,087,135
Ensembl chr13:84,253,287...84,256,069

G

SLIT and NTRK like family member 6

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

NCBI chr13:66,990,025...67,003,900
Ensembl chr13:86,161,905...86,164,430

G

sprouty RTK signaling antagonist 2

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

NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408

G

SPRY domain containing 7

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

NCBI chr13:31,053,278...31,076,746
Ensembl chr13:49,801,309...49,824,463

G

succinate-CoA ligase ADP-forming subunit beta

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

NCBI chr13:29,095,062...29,189,618
Ensembl chr13:47,797,472...47,856,138

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

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

NCBI chr13:33,688,941...33,724,687
Ensembl chr13:52,497,557...52,532,434

G

TBC1 domain family member 4

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

NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729

G

tudor domain containing 3

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

NCBI chr13:41,568,080...41,750,288
Ensembl chr13:60,290,518...60,470,245

G

thrombospondin type 1 domain containing 1

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

NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504

G

transmembrane protein 272

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

NCBI chr13:32,940,896...33,065,397

G

tripartite motif containing 13

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

NCBI chr13:31,137,236...31,153,398
Ensembl chr13:49,889,041...49,900,488

G

ubiquitin C-terminal hydrolase L3

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

NCBI chr13:56,776,436...56,832,539
Ensembl chr13:75,549,647...75,878,673

G

UTP14C small subunit processome component

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

NCBI chr13:33,144,810...33,166,033
Ensembl chr13:51,905,055...51,908,218

G

vacuolar protein sorting 36 homolog

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

NCBI chr13:33,398,165...33,436,615
Ensembl chr13:52,336,484...52,372,851

G

WD repeat and FYVE domain containing 2

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

NCBI chr13:32,714,088...32,896,885
Ensembl chr13:51,535,071...51,636,052

CIC-rearranged sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: CIC-DUX Sarcoma

PMID:25741868 PMID:28492532

NCBI chr17:4,980,083...4,983,219

G

upstream transcription factor family member 3

ClinVar Annotator: match by term: CIC-rearranged sarcoma

NCBI chr 3:110,759,044...110,838,334
Ensembl chr 3:117,713,127...117,738,346

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:32,497,931...32,624,307
Ensembl chr X:40,202,235...40,249,986

CLOVES syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha 11

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

PMID:25741868 PMID:27476652

NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124

G

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

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

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: CLOVES syndrome

PMID:25741868 PMID:34040190

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

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 chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472

G

tumor protein p53

ClinVar Annotator: match by term: Infantile fibrosarcoma

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

corpus callosum lipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Corpus callosum lipoma

NCBI chr11:112,035,502...112,066,170
Ensembl chr11:115,972,414...115,999,748

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 chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

KIT ligand

CTD Direct Evidence: marker/mechanism

NCBI chr12:86,036,501...86,124,274
Ensembl chr12:89,341,921...89,436,758

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

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

PMID:12641779 PMID:22153773

RGD:2292195 RGD:5688300

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans

PMID:25741868 PMID:28492532

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

dermoid cyst of ovary

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O3

OMIM:166950

NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272

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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid tumor

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

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

desmoplastic small round cell tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear pore complex interacting protein family member B2

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

NCBI chr16:10,866,105...10,914,833

G

TNF receptor superfamily member 17

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

NCBI chr16:10,903,795...10,906,542
Ensembl chr16:12,333,254...12,336,219

desmoplastic/nodular medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 1A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,082,765...99,106,305
Ensembl chr10:102,547,695...102,570,766

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564

G

ARF like GTPase 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,271,620...99,312,784
Ensembl chr10:102,735,325...102,775,849

G

arsenite methyltransferase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,470,026...99,502,829
Ensembl chr10:102,933,671...102,964,692

G

ATP synthase membrane subunit k

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,986,940...99,994,447
Ensembl chr10:103,447,873...103,455,044

G

BLOC-1 related complex subunit 7

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,455,004...99,466,304

G

chromosome 8 C10orf95 homolog

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,053,081...99,054,982

G

calcium homeostasis modulator 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,048,560...100,056,483
Ensembl chr10:103,511,873...103,517,376

G

calcium homeostasis modulator family member 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,044,254...100,049,892
Ensembl chr10:103,505,252...103,511,097

G

calcium homeostasis modulator 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,070,313...100,095,208
Ensembl chr10:103,531,298...103,537,746

G

cilia and flagella associated protein 43

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,729,982...100,831,694
Ensembl chr10:104,188,653...104,290,557

G

cilia and flagella associated protein 58

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,905,434...101,056,560
Ensembl chr10:104,412,171...104,514,920

G

cyclin and CBS domain divalent metal cation transport mediator 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,519,187...99,687,138
Ensembl chr10:102,982,148...103,137,580

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,630,959...100,685,715

G

CCCTC-binding factor

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041

G

cytochrome P450 family 17 subfamily A member 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514

G

glutathione S-transferase omega 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,853,682...100,866,892
Ensembl chr10:104,313,024...104,325,733

G

glutathione S-transferase omega 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,868,109...100,901,013
Ensembl chr10:104,326,175...104,357,604

G

internexin neuronal intermediate filament protein alpha

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,877,665...99,890,947
Ensembl chr10:103,340,438...103,353,888

G

inositol 1,4,5-trisphosphate receptor interacting protein

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,911,715...100,938,543
Ensembl chr10:104,372,767...104,374,410

G

major facilitator superfamily domain containing 13A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,064,824...99,080,600
Ensembl chr10:102,536,344...102,545,286

G

neuralized E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,093,614...100,192,485

G

5'-nucleotidase, cytosolic II

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513

G

polycomb group ring finger 6

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,901,760...99,949,733

G

programmed cell death 11

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,994,509...100,043,784
Ensembl chr10:103,455,649...103,504,784

G

ribulose-5-phosphate-3-epimerase like 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,845,304...99,847,250

G

SWI5 dependent homologous recombination repair protein 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,721,780...100,726,204
Ensembl chr10:104,180,672...104,184,880

G

sideroflexin 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,312,883...99,341,931
Ensembl chr10:102,775,965...102,801,323

G

SH3 and PX domains 2A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,193,961...100,455,200
Ensembl chr10:103,663,163...103,861,437

G

STE20 like kinase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,566,801...100,628,955
Ensembl chr10:104,027,041...104,088,671

G

sortilin related VPS10 domain containing receptor 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:101,239,765...101,856,507
Ensembl chr10:104,697,113...105,312,364

G

STN1 subunit of CST complex

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:100,456,589...100,518,010
Ensembl chr10:103,942,422...103,977,847

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472

G

TATA-box binding protein associated factor 5

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,965,537...99,986,955
Ensembl chr10:103,426,334...103,447,046

G

tripartite motif containing 8

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,242,187...99,256,342
Ensembl chr10:102,707,199...102,720,565

G

WW domain binding protein 1 like

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr10:99,342,361...99,417,504
Ensembl chr10:102,806,022...102,880,936

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 chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218

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 chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

diffuse intrinsic pontine glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 interacting DNA helicase 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

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

NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:25741868 PMID:28492532

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

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 chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735

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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

FA complementation group A

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

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

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 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

isocitrate dehydrogenase (NADP(+)) 1

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

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

lysine demethylase 5B

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

NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994

G

neurofibromin 1

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

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

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

partner and localizer of BRCA2

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

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

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 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984

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 chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

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

Ensembl chr 5:356,087...399,923

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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tetraspanin 31

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

PMID:25741868 PMID:28492532

NCBI chr12:31,178,439...31,188,737
Ensembl chr12:31,438,856...31,442,267

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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

embryonal rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:32,497,931...32,624,307
Ensembl chr X:40,202,235...40,249,986

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

myogenic differentiation 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:26619011 PMID:26822237

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

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

Ensembl chr19:1,188,537...1,210,677

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301

Embryonal Rhabdomyosarcoma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 22 member 18

NCBI chr11:2,927,586...2,950,801
Ensembl chr11:2,956,086...2,978,958

Embryonal Rhabdomyosarcoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

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

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

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

endodermal sinus tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha fetoprotein

protein:increased expression:serum

NCBI chr 4:50,739,197...50,758,459
Ensembl chr 4:56,571,519...56,590,391

G

catenin beta 1

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

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916

G

spalt like transcription factor 4

protein:increased expression:testis, nucleus (human)

NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822

G

Wnt family member 2B

mRNA:increased expression:tumor

NCBI chr 1:115,119,360...115,177,942
Ensembl chr 1:125,173,906...125,230,675

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 chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

Ependymomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EPH receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362

G

insulin like growth factor 2

mRNA:increased expression:cerebellum

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

BAF chromatin remodeling complex subunit BCL7C

CTD Direct Evidence: marker/mechanism

NCBI chr16:24,075,296...24,135,637
Ensembl chr16:31,198,675...31,261,837

G

RAB3A, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,672,661...17,679,541
Ensembl chr19:18,649,166...18,656,768

G

retbindin

CTD Direct Evidence: marker/mechanism

NCBI chr19:12,387,165...12,397,157
Ensembl chr19:13,129,659...13,139,842

G

SHC adaptor protein 3

DNA:amplification:brain:

NCBI chr 9:60,095,067...60,269,949
Ensembl chr 9:88,148,449...88,311,146

G

zinc finger protein 668

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494

Epithelioid Leiomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 5 chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095

G

collagen type IV alpha 6 chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:97,254,306...97,539,473
Ensembl chr X:107,625,718...107,908,363

epithelioid sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

protein:decreased expression:epithelial cell:

NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921

Ewing sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

CDKN1A interacting zinc finger protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449

G

early growth response 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:59,320,073...59,326,869
Ensembl chr10:61,648,364...61,652,846

G

EWS RNA binding protein 1

ClinVar Annotator: match by term: Ewing sarcoma

PMID:25741868 PMID:28492532

NCBI chr22:10,323,622...10,356,039
Ensembl chr22:28,131,109...28,163,134

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

PMID:11772151 PMID:16646077 PMID:26214589

NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312

G

lysine demethylase 3A

mRNA:increased expression:bone marrow (human)

NCBI chr2A:86,497,531...86,548,772

G

CD99 molecule (Xg blood group)

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

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 chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

tetraspanin 31

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr12:31,178,439...31,188,737
Ensembl chr12:31,438,856...31,442,267

Experimental Sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkylglycerone phosphate synthase

NCBI chr2B:64,671,136...64,823,956
Ensembl chr2B:182,375,149...182,520,557

G

albumin

mRNA,protein:decreased expression:liver,serum:

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

interferon gamma

treatment

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

KRAS proto-oncogene, GTPase

A to T transversion; Gln to His substitution

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

NRAS proto-oncogene, GTPase

DNA:transversion:exon p.Q61L (human)

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

solute carrier family 6 member 14

mRNA, protein:increased expression:brush border epithelial cell

NCBI chr X:105,496,347...105,521,217
Ensembl chr X:115,912,873...115,939,693

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 chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

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 chr 9:70,907,056...70,950,221

G

TATA-box binding protein associated factor 15

ClinVar Annotator: match by term: TAF15-related condition

PMID:25741868 PMID:28492532

NCBI chr17:20,948,186...20,985,925

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 chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

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 chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

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 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430

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 chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

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 chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304

G

mediator complex subunit 12

CTD Direct Evidence: marker/mechanism

PMID:25038752 PMID:26437033

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

retinoic acid receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:16,932,485...16,980,958

G

Wnt family member 2

mRNA:increased expression:breast

NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862

G

Wnt family member 4

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

NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801

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 chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738

G

BRF1 general transcription factor IIIB subunit

NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465

G

glutamate metabotropic receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047

fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 42

NCBI chr 1:21,245,970...21,286,210

G

discoidin domain receptor tyrosine kinase 2

ameliorates

DNA:deletion:exons:

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

G

early growth response 1

human tumor line expressing mouse gene in mouse model

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

ERCC excision repair 6, chromatin remodeling factor

susceptibility

NCBI chr10:44,703,720...44,784,948

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

serpin family E member 1

severity

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

telomerase reverse transcriptase

treatment

Ensembl chr 5:1,300,960...1,338,872

G

TNF receptor superfamily member 1A

human gene in mouse model

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

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 chr 8:10,318,455...10,428,469

G

matrix metallopeptidase 21

CTD Direct Evidence: marker/mechanism

NCBI chr10:122,325,909...122,338,047
Ensembl chr10:126,591,824...126,601,001

follicular dendritic cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 3

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

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

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

gastrointestinal stromal tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminoadipate-semialdehyde dehydrogenase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,536,000...67,591,204
Ensembl chr 4:74,110,736...74,159,809

G

ATP binding cassette subfamily B member 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:205,061,329...205,103,568
Ensembl chr 1:210,094,355...210,134,496

G

ABL proto-oncogene 2, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:154,586,423...154,711,621
Ensembl chr 1:158,280,994...158,313,915

G

acyl-CoA binding domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,606,028...201,646,107
Ensembl chr 1:206,603,023...206,641,311

G

acyl-CoA binding domain containing 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,774,799...155,988,767
Ensembl chr 1:159,448,023...159,661,741

G

atypical chemokine receptor 1 (Duffy blood group)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,554,406...134,557,386
Ensembl chr 1:138,352,086...138,354,733

G

acid phosphatase 6, lysophosphatidic

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:123,070,751...123,114,327
Ensembl chr 1:112,417,138...112,459,176

G

actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469

G

actinin alpha 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103

G

ADAM metallopeptidase domain 15

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,398,961...130,410,860
Ensembl chr 1:134,008,959...134,020,467

G

ADAM metallopeptidase with thrombospondin type 1 motif 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,602,140...136,611,469
Ensembl chr 1:140,514,247...140,523,623

G

ADAMTS like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,893,739...125,905,337
Ensembl chr 1:129,541,795...129,553,376

G

adenosine deaminase RNA specific

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,937,993...129,983,747

G

adenylate cyclase 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,239,576...143,404,038
Ensembl chr 1:147,023,671...147,129,705

G

adiponectin receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782

G

adenosine A1 receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760

G

adenylosuccinate synthase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:220,020,480...220,063,658
Ensembl chr 1:225,401,544...225,444,984

G

angiotensinogen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

AT-hook containing transcription factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,469,006...222,563,635
Ensembl chr 1:227,935,557...228,026,795

G

axin interactor, dorsalization associated

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:198,341,375...198,385,682

G

absent in melanoma 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,413,232...134,540,344
Ensembl chr 1:138,210,946...138,221,753

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838

G

aldehyde dehydrogenase 9 family member A1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:141,094,261...141,130,613
Ensembl chr 1:144,883,839...144,919,670

G

angel homolog 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,554,632...188,578,497
Ensembl chr 1:193,412,133...193,435,331

G

angiopoietin like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:154,339,139...154,360,540
Ensembl chr 1:158,030,657...158,052,089

G

ankyrin repeat domain 34A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,793,315...121,798,456

G

ankyrin repeat domain 35

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,871,624...121,891,265
Ensembl chr 1:113,779,221...113,797,541

G

ankyrin repeat domain 45

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,127,108...149,232,776
Ensembl chr 1:152,832,935...152,892,971

G

acidic nuclear phosphoprotein 32 family member E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,563,953...125,581,396
Ensembl chr 1:129,220,730...129,233,218

G

annexin A9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,331,255...126,345,056
Ensembl chr 1:129,979,652...129,993,456

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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

amyloid P component, serum

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,937,472...134,938,512
Ensembl chr 1:138,734,046...138,735,093

G

aph-1 homolog A, gamma-secretase subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,610,649...125,614,261
Ensembl chr 1:129,262,002...129,265,810

G

apolipoprotein A2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959

G

apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,176,432...159,183,349
Ensembl chr 1:163,335,294...163,336,397

G

aquaporin 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,677,969...129,682,681
Ensembl chr 1:133,291,027...133,295,265

G

ARF GTPase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105

G

Rho GTPase activating protein 30

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,459,485...136,482,384
Ensembl chr 1:140,372,824...140,395,323

G

Rho guanine nucleotide exchange factor 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,277,514...132,390,041
Ensembl chr 1:136,101,732...136,208,896

G

Rho/Rac guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299

G

AT-rich interaction domain 4B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:210,711,946...210,874,034
Ensembl chr 1:215,729,783...215,888,412

G

ARF like GTPase 8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,731,381...177,742,688
Ensembl chr 1:182,033,376...182,045,145

G

ARF like GTPase 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,397,990...67,418,407

G

aryl hydrocarbon receptor nuclear translocator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629

G

actin related protein 2/3 complex subunit 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,156,229...159,165,898
Ensembl chr 1:163,311,111...163,323,554

G

ARV1 homolog, fatty acid homeostasis modulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,527,777...206,549,606
Ensembl chr 1:211,554,553...211,576,484

G

achaete-scute family bHLH transcription factor 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,713,717...176,726,991

G

ASH1 like histone lysine methyltransferase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,679,868...130,906,918
Ensembl chr 1:134,286,761...134,468,722

G

assembly factor for spindle microtubules

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810

G

astrotactin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:152,385,103...152,688,885
Ensembl chr 1:156,085,398...156,284,771

G

activating transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,176,728...188,188,842
Ensembl chr 1:193,036,793...193,049,150

G

activating transcription factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725

G

ATPase Na+/K+ transporting subunit alpha 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303

G

ATPase Na+/K+ transporting subunit alpha 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,504,929...135,540,651
Ensembl chr 1:139,426,556...139,462,393

G

ATPase Na+/K+ transporting subunit beta 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:144,592,667...144,621,052
Ensembl chr 1:148,314,793...148,342,050

G

ATPase plasma membrane Ca2+ transporting 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,231,712...179,348,759
Ensembl chr 1:183,580,773...183,639,882

G

ATPase H+ transporting V1 subunit G3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:174,130,976...174,148,524
Ensembl chr 1:178,440,516...178,458,108

G

ATPase phospholipid transporting 8B2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,682,886...129,708,702
Ensembl chr 1:133,295,437...133,319,167

G

arginine vasopressin receptor 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,713,548...181,723,645
Ensembl chr 1:185,999,627...186,007,043

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251

G

beta-1,3-N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060

G

beta-1,3-galactosyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:168,638,291...168,645,893
Ensembl chr 1:172,928,889...172,934,683

G

beta-1,4-galactosyltransferase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,583,783...136,590,416
Ensembl chr 1:140,496,597...140,503,214

G

B9 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391

G

BAG cochaperone 6

disease_progression

NCBI chr 6:31,300,126...31,313,829
Ensembl chr 6:32,190,037...32,204,321

G

basic leucine zipper ATF-like transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,256,087...188,271,196
Ensembl chr 1:193,116,694...193,131,228

G

brevican

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,985,310...132,003,068
Ensembl chr 1:135,808,783...135,826,344

G

BCL9 transcription coactivator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:122,982,604...123,067,299
Ensembl chr 1:112,463,904...112,478,264

G

bone gamma-carboxyglutamate protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432

G

basic leucine zipper nuclear factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:144,850,261...144,870,672
Ensembl chr 1:148,572,418...148,592,827

G

BCL2 interacting protein like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,385,651...126,396,697

G

BOC cell adhesion associated, oncogene regulated

CTD Direct Evidence: marker/mechanism

NCBI chr 3:110,354,576...110,429,954
Ensembl chr 3:117,277,769...117,352,741

G

bolA family member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,243,651...125,244,928
Ensembl chr 1:128,900,477...128,900,890

G

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

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:195,629,262...195,663,144
Ensembl chr 1:200,667,016...200,699,790

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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

BMP/retinoic acid inducible neural specific 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:152,694,667...152,806,085
Ensembl chr 1:156,450,411...156,502,742

G

BMP/retinoic acid inducible neural specific 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:165,586,510...165,972,173
Ensembl chr 1:169,873,541...170,258,015

G

BRO1 domain and CAAX motif containing

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:198,385,748...198,408,408
Ensembl chr 1:203,399,224...203,421,920

G

BTG anti-proliferation factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,907,317...178,911,410
Ensembl chr 1:183,201,297...183,205,404

G

Butyrophilin-like protein 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,912,276...203,914,201

G

chromosome 1 C1orf105 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565

G

chromosome 1 C1orf115 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:196,276,253...196,285,549

G

chromosome 1 C1orf198 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,386,486...206,417,583
Ensembl chr 1:211,413,850...211,445,020

G

chromosome 1 C1orf21 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,915,683...160,157,087
Ensembl chr 1:164,162,395...164,303,139

G

chromosome 1 C1orf35 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,502,917...203,505,504

G

chromosome 1 C1orf43 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,562,110...129,575,866

G

chromosome 1 C1orf53 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:173,496,205...173,501,155
Ensembl chr 1:177,807,597...177,812,444

G

chromosome 1 C1orf54 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,614,337...125,626,216
Ensembl chr 1:129,269,073...129,277,135

G

chromosome 1 C1orf56 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,396,829...126,400,540
Ensembl chr 1:130,044,491...130,048,187

G

chromosome 1 C1orf74 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,354,702...185,361,089
Ensembl chr 1:190,163,274...190,164,083

G

C2 domain containing 3 centriole elongation regulator

CTD Direct Evidence: marker/mechanism

NCBI chr11:69,085,434...69,244,791

G

C2 calcium dependent domain containing 4D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,196,449...127,197,682

G

complement component 4 binding protein beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,691,574...182,703,004
Ensembl chr 1:186,970,253...186,981,024

G

carbonic anhydrase 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,602,521...125,610,323
Ensembl chr 1:129,253,787...129,261,676

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270

G

calcium voltage-gated channel subunit alpha1 S

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,639,189...176,712,171
Ensembl chr 1:180,941,836...181,014,823

G

calcyclin binding protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:150,511,021...150,522,369
Ensembl chr 1:154,210,001...154,220,583

G

cell adhesion molecule 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,522,614...134,552,959
Ensembl chr 1:138,319,952...138,350,307

G

calcium/calmodulin dependent protein kinase IG

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,160,170...185,190,470
Ensembl chr 1:189,965,490...189,995,703

G

calmodulin regulated spectrin associated protein family member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,339,766...176,460,808
Ensembl chr 1:180,644,200...180,764,136

G

calpain 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,335,582...199,399,267
Ensembl chr 1:204,335,573...204,409,150

G

calpain 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,214,906...199,288,530
Ensembl chr 1:204,227,881...204,299,869

G

calpain 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,297,088...206,347,427
Ensembl chr 1:211,324,405...211,378,944

G

calsequestrin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,544,249...135,555,545
Ensembl chr 1:139,465,605...139,476,969

G

catsper channel auxiliary subunit epsilon

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:220,072,548...220,233,904
Ensembl chr 1:225,454,034...225,613,797

G

coiled-coil and C2 domain containing 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281

G

coiled-coil domain containing 181

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:144,877,237...144,943,380
Ensembl chr 1:148,599,559...148,632,247

G

coiled-coil domain containing 185

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,071,852...199,074,056
Ensembl chr 1:204,083,730...204,085,601

G

coiled-coil domain containing 190

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:138,267,683...138,301,945
Ensembl chr 1:142,064,026...142,070,544

G

centriole, cilia and spindle associated protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:204,865,261...204,887,279

G

chaperonin containing TCP1 subunit 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,652,058...131,679,802
Ensembl chr 1:135,481,427...135,508,983

G

CD1a molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,574,983...133,617,542
Ensembl chr 1:137,403,872...137,407,057

G

CD1b molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,686,155...133,689,732
Ensembl chr 1:137,476,898...137,480,471

G

CD1c molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,647,482...133,651,575
Ensembl chr 1:137,437,235...137,441,075

G

CD1d molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173

G

CD244 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,186,906...136,219,669
Ensembl chr 1:140,110,808...140,123,065

G

CD247 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:142,863,860...142,951,851
Ensembl chr 1:146,648,733...146,736,071

G

CD34 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:183,459,028...183,489,583
Ensembl chr 1:188,272,551...188,297,384

G

CD46 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046

G

CD48 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,034,278...136,067,533
Ensembl chr 1:139,956,862...139,990,082

G

CD55 molecule (Cromer blood group)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,923,369...182,962,518
Ensembl chr 1:187,201,081...187,240,350

G

CD5 molecule like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,192,387...133,203,293
Ensembl chr 1:136,985,701...136,996,263

G

CD84 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,901,375...135,934,791
Ensembl chr 1:139,819,254...139,857,559

G

CDC42 binding protein kinase alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:202,448,571...202,780,486
Ensembl chr 1:207,438,330...207,766,907

G

CDC42 small effector 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,400,094...126,408,769
Ensembl chr 1:130,047,765...130,056,447

G

cell division cycle 73

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

G

cyclin dependent kinase 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,113,560...181,141,758
Ensembl chr 1:185,399,162...185,427,631

G

cell adhesion associated, oncogene regulated

CTD Direct Evidence: marker/mechanism

NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091

G

CUGBP Elav-like family member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,060,330...127,075,106
Ensembl chr 1:130,701,452...130,718,578

G

centromere protein F

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518

G

centromere protein L

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,317,149...149,342,267
Ensembl chr 1:153,020,837...153,045,866

G

centrosomal protein 135

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,895,930...67,980,231
Ensembl chr 4:74,463,689...74,547,735

G

centrosomal protein 170

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:218,726,142...218,856,585
Ensembl chr 1:224,107,145...224,238,813

G

centrosomal protein 350

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,436,014...155,601,800
Ensembl chr 1:159,147,376...159,271,848

G

ceramide synthase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,314,483...126,324,312
Ensembl chr 1:129,962,022...129,972,722

G

cilia and flagella associated protein 126

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,774,574...136,777,713
Ensembl chr 1:140,685,157...140,688,063

G

cilia and flagella associated protein 141

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,554,502...129,562,071
Ensembl chr 1:133,168,973...133,175,964

G

cilia and flagella associated protein 45

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,223,885...135,251,829
Ensembl chr 1:139,144,634...139,172,558

G

complement factor H

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

complement factor H related 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,541,948...172,574,591
Ensembl chr 1:176,876,635...176,908,723

G

cingulin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,869,973...126,897,024

G

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219

G

chitinase 3 like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

chitinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,816,396...178,875,895

G

CHM like Rab escort protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:217,191,065...217,202,578

G

cholinergic receptor muscarinic 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:214,931,514...215,452,739

G

cholinergic receptor nicotinic beta 2 subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,922,740...129,931,582
Ensembl chr 1:133,535,023...133,547,361

G

chromatin target of PRMT1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,989,920...129,002,242
Ensembl chr 1:132,617,934...132,630,654

G

circadian associated repressor of transcription

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,627,812...125,632,367
Ensembl chr 1:129,278,742...129,283,271

G

CDC28 protein kinase regulatory subunit 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,323,170...130,327,762
Ensembl chr 1:133,932,899...133,937,491

G

CDC like kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,607,877...130,618,461
Ensembl chr 1:134,213,237...134,221,288

G

clock circadian regulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:68,391,310...68,509,813
Ensembl chr 4:75,018,898...75,066,726

G

cornichon family AMPA receptor auxiliary protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,903,319...200,243,433
Ensembl chr 1:205,092,073...205,216,665

G

cornichon family member 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,825,889...199,848,664
Ensembl chr 1:204,834,031...204,855,747

G

consortin, connexin sorting protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,184,419...222,291,611
Ensembl chr 1:227,563,246...227,759,310

G

contactin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,645,259...180,680,081
Ensembl chr 1:184,931,497...184,966,482

G

component of oligomeric golgi complex 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,192,089...206,243,604
Ensembl chr 1:211,219,199...211,269,894

G

collagen beta(1-O)galactosyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,458,317...159,566,856
Ensembl chr 1:163,621,898...163,727,151

G

COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:151,459,354...151,727,131
Ensembl chr 1:155,156,185...155,425,156

G

COPI coat complex subunit alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,643,677...135,697,584
Ensembl chr 1:139,564,084...139,618,520

G

coenzyme Q8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008

G

complement C3b/C4b receptor 1 (Knops blood group)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:183,094,601...183,246,957

G

complement C3b/C4b receptor 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:183,224,415...183,303,268
Ensembl chr 1:188,031,758...188,182,046

G

complement C3d receptor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:183,052,798...183,088,385
Ensembl chr 1:187,330,483...187,366,069

G

cellular retinoic acid binding protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,043,097...132,049,366
Ensembl chr 1:135,864,807...135,870,145

G

capping protein inhibiting regulator of actin dynamics

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,598,880...67,880,269
Ensembl chr 4:74,167,488...74,199,802

G

crumbs cell polarity complex component 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,794,523...173,076,045
Ensembl chr 1:177,174,431...177,422,867

G

cysteine rich C-terminal 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,850,640...127,853,444
Ensembl chr 1:131,482,981...131,483,295

G

cAMP responsive element binding protein 3 like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,324,479...129,331,204
Ensembl chr 1:132,953,062...132,959,696

G

cellular repressor of E1A stimulated genes 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:142,974,260...142,987,071
Ensembl chr 1:146,758,325...146,770,978

G

cornulin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,743,094...127,748,737

G

C-reactive protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,062,102...135,064,402

G

colony stimulating factor 1 receptor

DNA:mutation:exon 9: (human)

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

G

cysteine and glycine rich protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,081,772...177,105,448
Ensembl chr 1:181,382,994...181,406,863

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547

G

cathepsin E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,617,421...181,632,260
Ensembl chr 1:185,900,746...185,915,519

G

cathepsin K

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316

G

cathepsin S

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,084,249...126,118,221
Ensembl chr 1:129,733,996...129,768,318

G

death associated protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,024,977...131,072,860
Ensembl chr 1:134,876,063...134,905,280

G

aspartyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461

G

DDB1 and CUL4 associated factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,424,700...143,563,049
Ensembl chr 1:147,162,680...147,289,629

G

DDB1 and CUL4 associated factor 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,569,736...135,616,614
Ensembl chr 1:139,490,069...139,537,572

G

DC-STAMP domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,381,851...130,398,975
Ensembl chr 1:133,991,485...134,008,614

G

DC-STAMP domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,366,692...130,382,001

G

discoidin domain receptor tyrosine kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

G

DEAD-box helicase 59

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,227,065...176,270,421
Ensembl chr 1:180,532,445...180,571,460

G

death effector domain containing

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,533,756...136,545,107
Ensembl chr 1:140,447,011...140,457,876

G

delta 4-desaturase, sphingolipid 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,651,712...199,661,848
Ensembl chr 1:204,659,389...204,668,901

G

DENN domain containing 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:173,102,371...173,365,024
Ensembl chr 1:177,420,565...177,676,293

G

DENN domain containing 4B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,286,076...129,303,279
Ensembl chr 1:132,914,514...132,929,906

G

desumoylating isopeptidase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:220,246,390...220,302,577
Ensembl chr 1:225,626,913...225,682,772

G

dihydrofolate reductase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:25227144 PMID:28492532

NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003

G

DExH-box helicase 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,355,472...158,404,178
Ensembl chr 1:162,006,822...162,055,833

G

DISC1 scaffold protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:207,180,513...207,594,684
Ensembl chr 1:212,265,520...212,612,079

G

dispatched RND transporter family member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:198,488,047...198,679,013
Ensembl chr 1:203,628,338...203,692,218

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

dynein axonemal heavy chain 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:200,399,800...200,863,406
Ensembl chr 1:205,405,249...205,868,182

G

dynamin 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:147,339,773...147,916,513
Ensembl chr 1:151,049,346...151,615,808

G

dolichyl-phosphate mannosyltransferase subunit 3, regulatory

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,487,584...130,488,330
Ensembl chr 1:134,096,219...134,096,587

G

dermatopontin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:144,182,053...144,218,632
Ensembl chr 1:147,904,337...147,938,208

G

dual serine/threonine and tyrosine protein kinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,750,987...180,820,096
Ensembl chr 1:185,041,994...185,107,041

G

denticleless E3 ubiquitin protein ligase homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:187,603,600...187,672,006
Ensembl chr 1:192,466,408...192,535,071

G

dual specificity phosphatase 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:197,293,039...197,333,828
Ensembl chr 1:202,367,318...202,404,720

G

dual specificity phosphatase 12

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,161,774...137,169,503
Ensembl chr 1:140,959,867...140,968,821

G

dual specificity phosphatase 23

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,132,451...135,134,101
Ensembl chr 1:139,053,238...139,054,865

G

dual specificity tyrosine phosphorylation regulated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,241,325...21,260,321
Ensembl chr12:21,757,436...21,767,505

G

dual specificity tyrosine phosphorylation regulated kinase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,237,556...182,255,984
Ensembl chr 1:186,517,041...186,530,272

G

extracellular matrix protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,853,337...125,858,904
Ensembl chr 1:129,502,041...129,507,819

G

EDAR associated via death domain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046
Ensembl chr 1:216,960,418...217,044,046

G

ER degradation enhancing alpha-mannosidase like protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,217,526...160,281,785
Ensembl chr 1:164,372,977...164,436,977

G

EF-hand calcium binding domain 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:220,567,609...220,731,339
Ensembl chr 1:225,948,238...226,102,223

G

ephrin A1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,475,128...130,482,531
Ensembl chr 1:134,083,855...134,091,228

G

ephrin A3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,426,910...130,435,628
Ensembl chr 1:134,036,490...134,045,213

G

ephrin A4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,410,991...130,417,593
Ensembl chr 1:134,021,405...134,027,212

G

egl-9 family hypoxia inducible factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,915,541...206,976,656

G

eukaryotic translation initiation factor 2D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,193,709...182,214,981
Ensembl chr 1:186,473,496...186,494,896

G

E74 like ETS transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,607,265...177,613,234
Ensembl chr 1:181,908,747...181,915,354

G

ETS transcription factor ELK4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,216,587...181,242,023
Ensembl chr 1:185,509,937...185,518,452

G

elongator acetyltransferase complex subunit 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:31,473,439...31,754,446

G

ENAH actin regulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:200,956,988...201,113,242
Ensembl chr 1:205,963,247...206,115,672

G

endosulfine alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,973,344...125,980,839
Ensembl chr 1:129,599,495...129,629,779

G

endosomal transmembrane epsin interactor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,592,215...130,600,884
Ensembl chr 1:134,197,555...134,205,476

G

epoxide hydrolase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581

G

glutamyl-prolyl-tRNA synthetase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:195,537,319...195,618,257
Ensembl chr 1:200,575,259...200,656,197

G

endoplasmic reticulum oxidoreductase 1 beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:211,782,071...211,849,308
Ensembl chr 1:216,786,605...216,850,463

G

estrogen related receptor gamma

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:192,074,260...192,667,610
Ensembl chr 1:196,929,197...197,153,195

G

ethanolamine kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,733,953...179,754,899
Ensembl chr 1:184,021,504...184,042,946

G

ETS variant transcription factor 3 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,434,699...132,443,330
Ensembl chr 1:136,256,336...136,264,100

G

exonuclease 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:217,410,175...217,451,982
Ensembl chr 1:222,389,684...222,431,556

G

exocyst complex component 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:68,024,177...68,075,565
Ensembl chr 4:74,591,574...74,642,955

G

exocyst complex component 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,884,334...206,889,753
Ensembl chr 1:211,911,802...211,913,979

G

F11 receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,399,766...136,424,722
Ensembl chr 1:140,324,943...140,346,890

G

coagulation factor XIII B chain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,623,336...172,651,945
Ensembl chr 1:176,937,158...176,965,773

G

coagulation factor V

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

family with sequence similarity 177 member B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:198,410,332...198,424,308
Ensembl chr 1:203,433,254...203,437,394

G

FAM20B glycosaminoglycan xylosylkinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:154,510,050...154,558,868
Ensembl chr 1:158,217,079...158,249,897

G

family with sequence similarity 72 member A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,792,764...181,811,141

G

family with sequence similarity 78 member B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:141,483,720...141,594,496
Ensembl chr 1:145,287,152...145,382,571

G

family with sequence similarity 89 member A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,569,308...206,590,599

G

Fas ligand

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

F-box protein 28

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,582,552...199,630,575
Ensembl chr 1:204,593,073...204,638,769

G

Fc alpha and mu receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,561,953...182,574,818
Ensembl chr 1:186,841,103...186,852,689

G

Fc epsilon receptor Ia

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,655,230...134,660,961
Ensembl chr 1:138,439,921...138,458,258

G

Fc epsilon receptor Ig

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,627,672...136,631,696
Ensembl chr 1:140,539,555...140,544,810

G

Fc gamma receptor Ia

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,127,073...125,136,911
Ensembl chr 1:128,805,484...128,814,220

G

Fc gamma receptor IIb

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637

G

Fc gamma receptor IIIa

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,027,943...137,036,738

G

Fc mu receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,506,551...182,525,249
Ensembl chr 1:186,786,147...186,803,789

G

Fc receptor like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,156,161...133,181,900

G

Fc receptor like 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,038,100...133,062,467
Ensembl chr 1:136,830,553...136,855,027

G

Fc receptor like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,935,602...132,960,346
Ensembl chr 1:136,728,473...136,752,838

G

Fc receptor like 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,875,598...132,915,018
Ensembl chr 1:136,666,603...136,785,242

G

Fc receptor like A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,119,112...137,126,486
Ensembl chr 1:140,918,698...140,926,515

G

Fc receptor like B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,134,362...137,140,232
Ensembl chr 1:140,934,358...140,939,324

G

farnesyl diphosphate synthase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237

G

fumarate hydratase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

G

FIGNL1 interacting regulator of recombination and mitosis

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:145,277,657...145,340,329
Ensembl chr 1:148,999,127...149,057,553

G

flavin adenine dinucleotide synthetase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,331,795...130,341,279
Ensembl chr 1:133,941,665...133,950,399

G

filaggrin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,634,416...127,649,659

G

fms related receptor tyrosine kinase 3

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

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

G

FLVCR choline and heme transporter 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,425,697...188,466,721
Ensembl chr 1:193,284,158...193,320,554

G

formin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:215,626,889...216,023,590

G

flavin containing dimethylaniline monoxygenase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:146,742,505...146,778,560
Ensembl chr 1:150,456,729...150,492,527

G

flavin containing dimethylaniline monoxygenase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:146,678,858...146,704,831
Ensembl chr 1:150,393,061...150,417,295

G

flavin containing dimethylaniline monoxygenase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:146,583,570...146,611,720
Ensembl chr 1:150,298,957...150,325,850

G

flavin containing dimethylaniline monoxygenase 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:146,806,413...146,834,315
Ensembl chr 1:150,520,375...150,548,270

G

flavin containing dimethylaniline monoxygenase 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:122,605,677...122,648,325
Ensembl chr 1:112,881,859...112,921,194

G

fibromodulin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,942,472...178,953,158
Ensembl chr 1:183,238,130...183,244,074

G

forkhead box F1

CTD Direct Evidence: marker/mechanism

NCBI chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949

G

40S small subunit processome assembly factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,776,710...206,794,199
Ensembl chr 1:211,801,832...211,819,280

G

G0/G1 switch 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,251,903...185,252,882
Ensembl chr 1:190,057,382...190,057,693

G

GA binding protein transcription factor subunit beta 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,419,892...126,479,691
Ensembl chr 1:130,084,854...130,114,493

G

polypeptide N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:205,615,072...205,830,399
Ensembl chr 1:210,750,698...210,859,867

G

golgi associated RAB2 interactor family member 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,192,581...188,194,867
Ensembl chr 1:193,053,270...193,055,054

G

GATA zinc finger domain containing 2B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,161,151...129,279,702
Ensembl chr 1:132,794,458...132,813,108

G

glucosylceramidase beta 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851

G

germinal center associated signaling and motility like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,154,712...223,211,381
Ensembl chr 1:228,594,489...228,663,295

G

geranylgeranyl diphosphate synthase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:210,874,385...210,888,647
Ensembl chr 1:215,888,966...215,902,845

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

gap junction protein alpha 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:123,352,801...123,355,625
Ensembl chr 1:112,174,365...112,177,893

G

gap junction protein gamma 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,551,556...203,561,702

G

GLI family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473

G

GLI family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442

G

GLI family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865

G

GLIS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:3,234,549...3,257,994
Ensembl chr16:4,418,524...4,425,631

G

glycosylated lysosomal membrane protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,635,614...131,638,610
Ensembl chr 1:135,465,671...135,468,666

G

glutaredoxin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:168,555,858...168,565,949
Ensembl chr 1:172,849,013...172,859,062

G

glutamate-ammonia ligase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411

G

G protein subunit gamma 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:211,109,952...211,218,547
Ensembl chr 1:216,121,864...216,154,657

G

glyceronephosphate O-acyltransferase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,794,245...206,830,840
Ensembl chr 1:211,819,259...211,855,885

G

golgi phosphoprotein 3 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,002,787...126,053,672
Ensembl chr 1:129,652,118...129,703,379

G

golgi transport 1A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,800,580...179,816,530
Ensembl chr 1:184,080,570...184,104,815
Ensembl chr 1:184,080,570...184,104,815

G

gon-4 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,084,009...131,193,884
Ensembl chr 1:134,917,791...135,020,042

G

golgin, RAB6 interacting

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:146,020,446...146,042,334
Ensembl chr 1:149,736,641...149,758,010

G

glycoprotein A33

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:142,473,352...142,512,364
Ensembl chr 1:146,259,431...146,298,105

G

G-patch domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:193,003,601...193,205,432
Ensembl chr 1:197,857,941...198,059,474

G

G protein-coupled receptor 137B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:211,709,507...211,775,846
Ensembl chr 1:216,696,105...216,778,370

G

G protein-coupled receptor 161

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,566,775...143,625,357
Ensembl chr 1:147,299,350...147,350,451

G

G protein-coupled receptor 25

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,473,049...176,474,934
Ensembl chr 1:180,776,181...180,777,215

G

G protein-coupled receptor 37 like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,720,832...177,731,551
Ensembl chr 1:182,022,600...182,028,623

G

G protein-coupled receptor 52

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,954,556...149,959,653

G

G protein-coupled receptor 89A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:122,092,157...122,154,820

G

gremlin 2, DAN family BMP antagonist

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:216,037,977...216,163,020
Ensembl chr 1:221,026,605...221,027,111

G

guanylate kinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,541,866...203,550,827
Ensembl chr 1:208,753,657...208,765,857

G

H3.4 histone, cluster member

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,826,506...203,827,872
Ensembl chr 1:209,038,009...209,038,419

G

hyaluronan and proteoglycan link protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,962,801...131,969,331
Ensembl chr 1:135,785,754...135,792,652

G

HCLS1 associated protein X-1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,627,564...129,630,920
Ensembl chr 1:133,241,077...133,244,431

G

hyperpolarization activated cyclic nucleotide gated potassium channel 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,621,991...130,634,402
Ensembl chr 1:134,227,404...134,240,120

G

heparin binding growth factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,085,446...132,110,214
Ensembl chr 1:135,907,119...135,917,607

G

HEAT repeat containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:212,110,229...212,164,299
Ensembl chr 1:217,109,359...217,164,791

G

hedgehog acyltransferase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,885,604...186,231,857
Ensembl chr 1:190,755,249...191,100,284

G

hedgehog interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:136,989,818...137,085,407
Ensembl chr 4:148,651,597...148,744,619

G

HHIP like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:198,195,530...198,222,023
Ensembl chr 1:203,209,978...203,235,551

G

homeodomain interacting protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:88,579,603...88,627,988
Ensembl chr 1:123,633,134...123,677,714

G

homeodomain interacting protein kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:131,506,711...131,722,943

G

hemojuvelin BMP co-receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,738,465...121,742,743
Ensembl chr 1:113,926,383...113,930,761

G

H2.0 like homeobox

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:196,465,704...196,471,803
Ensembl chr 1:201,500,470...201,506,222

G

hemicentin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:161,254,948...161,717,526
Ensembl chr 1:165,522,384...165,869,148

G

heterogeneous nuclear ribonucleoprotein U

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:220,450,218...220,461,412
Ensembl chr 1:225,817,899...225,842,031

G

HOP homeobox

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,240,801...67,274,419
Ensembl chr 4:73,833,886...73,843,060

G

HORMA domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,054,585...126,077,361
Ensembl chr 1:129,704,451...129,726,691

G

hornerin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,570,653...127,583,285

G

hydroxysteroid 11-beta dehydrogenase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765

G

hydroxysteroid 17-beta dehydrogenase 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:138,204,544...138,226,689

G

heat shock protein family A (Hsp70) member 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,911,131...136,914,319

G

isoleucyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:195,666,995...195,720,661
Ensembl chr 1:200,703,711...200,757,648

G

iron-sulfur cluster assembly factor IBA57

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,566,902...203,577,857

G

immediate early response 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:156,565,169...156,569,648

G

interferon gamma inducible protein 16

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,364,706...134,405,910
Ensembl chr 1:138,152,328...138,203,424

G

intraflagellar transport 172

CTD Direct Evidence: marker/mechanism

NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406

G

intraflagellar transport 52

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,929,523...39,986,072
Ensembl chr20:41,023,517...41,080,500

G

intraflagellar transport 88

CTD Direct Evidence: marker/mechanism

NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204

G

immunoglobulin like and fibronectin type III domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,792,309...176,828,813

G

immunoglobulin superfamily member 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,445,180...135,452,684
Ensembl chr 1:139,366,228...139,374,732

G

immunoglobulin superfamily member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,278,902...135,297,887
Ensembl chr 1:139,199,466...139,218,482

G

Indian hedgehog signaling molecule

CTD Direct Evidence: marker/mechanism

NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506

G

inhibitor of nuclear factor kappa B kinase subunit epsilon

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,070,565...182,096,797
Ensembl chr 1:186,351,807...186,377,971

G

interleukin 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 19

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748

G

interleukin 20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,468,571...182,472,440
Ensembl chr 1:186,747,086...186,750,952

G

interleukin 24

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,500,680...182,507,098
Ensembl chr 1:186,779,207...186,785,928

G

interleukin 6 receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089

G

immunoglobulin like domain containing receptor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:142,315,984...142,395,729
Ensembl chr 1:146,125,919...146,181,822

G

interleukin enhancer binding factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,018,622...129,027,550
Ensembl chr 1:132,647,296...132,656,361

G

innate immunity activator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,491,264...176,514,719
Ensembl chr 1:180,794,646...180,818,853

G

insulin receptor related receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374

G

integrator complex subunit 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,084,681...129,130,669
Ensembl chr 1:132,714,200...132,759,842

G

integrator complex subunit 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:187,508,066...187,603,567
Ensembl chr 1:192,372,016...192,466,510

G

importin 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,426,144...177,480,948
Ensembl chr 1:181,727,697...181,775,242

G

IQ motif containing GTPase activating protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,869,002...131,916,554
Ensembl chr 1:135,695,602...135,740,564

G

interferon regulatory factor 2 binding protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:210,143,516...210,148,878

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145

G

interferon stimulated exonuclease gene 20 like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,064,860...132,071,722
Ensembl chr 1:135,887,702...135,892,908

G

integrin subunit alpha 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,847,420...121,866,560
Ensembl chr 1:113,803,019...113,821,908

G

intelectin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,233,093...136,242,888
Ensembl chr 1:140,156,335...140,165,211

G

intelectin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,349,475...136,359,719
Ensembl chr 1:140,273,094...140,282,905

G

inositol-trisphosphate 3-kinase B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:202,091,263...202,198,880
Ensembl chr 1:207,084,883...207,191,678

G

involucrin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,254,139...128,256,893

G

influenza virus NS1A binding protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,822,327...160,843,022
Ensembl chr 1:164,974,734...164,995,608

G

jumonji domain containing 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,131,505...203,135,761
Ensembl chr 1:208,111,362...208,115,533

G

jumping translocation breakpoint

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,331,335...129,334,873
Ensembl chr 1:132,959,843...132,963,865

G

potassium voltage-gated channel subfamily H member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:186,233,881...186,696,509
Ensembl chr 1:191,107,256...191,562,766

G

potassium inwardly rectifying channel subfamily J member 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,391,321...135,424,100

G

potassium inwardly rectifying channel subfamily J member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,433,895...135,447,397
Ensembl chr 1:139,356,387...139,365,444

G

potassium two pore domain channel subfamily K member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:209,149,558...209,210,873
Ensembl chr 1:214,178,631...214,238,379

G

potassium two pore domain channel subfamily K member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:190,576,180...190,807,367
Ensembl chr 1:195,430,994...195,662,840

G

potassium calcium-activated channel subfamily N member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,052,903...130,218,977
Ensembl chr 1:133,666,876...133,828,366

G

potassium sodium-activated channel subfamily T member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,722,130...172,112,927
Ensembl chr 1:176,003,920...176,390,592

G

potassium channel tetramerization domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:191,138,755...191,193,352
Ensembl chr 1:195,992,842...196,051,606

G

lysine demethylase 5B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994

G

kinase insert domain receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KH domain containing 4, pre-mRNA splicing factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,246,577...131,268,296
Ensembl chr 1:135,076,831...135,097,760

G

KIAA0040 ortholog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:150,669,479...150,705,474
Ensembl chr 1:154,370,708...154,371,004

G

KIAA1614 ortholog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:156,389,268...156,428,773
Ensembl chr 1:160,061,085...160,090,396

G

kinesin family member 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,156,870...176,223,093
Ensembl chr 1:180,462,578...180,526,323

G

kinesin family member 21B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,569,305...176,623,403
Ensembl chr 1:180,872,306...180,925,725

G

kinesin family member 26B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:220,756,171...221,321,969
Ensembl chr 1:226,343,821...226,681,669

G

kinesin family member 3A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:128,112,636...128,154,443
Ensembl chr 5:134,274,352...134,315,431

G

kinesin associated protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:145,410,755...145,564,248
Ensembl chr 1:149,127,548...149,280,831

G

kirre like nephrin family adhesion molecule 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,363,880...133,465,717
Ensembl chr 1:137,233,701...137,255,927

G

KiSS-1 metastasis suppressor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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
DNA:SNP: :rs17084733 (human)

OMIM
ClinVar
RGD

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

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

kelch domain containing 8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,944,827...180,965,141
Ensembl chr 1:185,232,882...185,239,077

G

kelch domain containing 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,510,686...136,512,772

G

kelch like family member 12

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,490,467...178,527,919
Ensembl chr 1:182,785,420...182,821,965

G

kelch like family member 20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,232,858...149,303,357
Ensembl chr 1:152,937,835...153,008,239

G

kynurenine 3-monooxygenase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:217,094,037...217,157,827
Ensembl chr 1:222,075,268...222,138,866

G

KPRP N-terminal and LCE C-terminal like protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,064,008...128,064,950
Ensembl chr 1:131,694,686...131,695,438

G

keratinocyte proline rich protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,102,434...128,106,461
Ensembl chr 1:131,734,572...131,736,311

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

keratinocyte associated protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,517,075...130,526,621
Ensembl chr 1:134,125,272...134,129,527

G

ladinin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,979,109...176,997,837
Ensembl chr 1:181,281,294...181,298,732

G

laminin subunit beta 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,191,401...185,245,154
Ensembl chr 1:189,996,639...190,034,206

G

laminin subunit gamma 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,541,635...158,663,836
Ensembl chr 1:162,700,704...162,822,534

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864

G

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,396,937...131,400,695
Ensembl chr 1:135,226,400...135,230,167

G

lymphocyte transmembrane adaptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,370,097...179,379,618
Ensembl chr 1:183,660,297...183,671,335

G

lamin B receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032

G

late cornified envelope 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

Ensembl chr 1:131,787,453...131,787,809

G

late cornified envelope 3A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,957,291...127,957,560
Ensembl chr 1:131,588,158...131,588,427

G

late cornified envelope 3B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,948,218...127,948,505
Ensembl chr 1:131,579,085...131,579,372

G

late cornified envelope 3C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,934,426...127,935,482
Ensembl chr 1:131,565,992...131,566,276

G

late cornified envelope 3D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,913,792...127,914,948
Ensembl chr 1:131,544,969...131,545,247

G

late cornified envelope 4A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,053,534...128,053,844

G

late cornified envelope 6A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,187,490...128,188,665
Ensembl chr 1:131,818,696...131,818,938

G

left-right determination factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,398,235...201,402,906
Ensembl chr 1:206,397,118...206,401,839

G

late cornified envelope like proline rich 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,546,313...128,548,024

G

LEM domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,989,459...181,064,139
Ensembl chr 1:185,272,595...185,349,976

G

lens epithelial protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,341,395...130,342,409
Ensembl chr 1:133,950,896...133,951,081

G

galectin 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:212,083,584...212,112,182

G

leucine rich repeat containing G protein-coupled receptor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,789,079...177,917,234
Ensembl chr 1:182,101,420...182,214,825

G

LIM homeobox 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,716,853...155,765,419
Ensembl chr 1:159,390,105...159,438,802

G

LIM homeobox 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:173,504,443...173,528,955
Ensembl chr 1:177,817,265...177,836,800

G

lin-9 DREAM MuvB core complex component

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,690,431...201,770,170
Ensembl chr 1:206,684,578...206,763,796

G

long intergenic non-protein coding RNA 2897

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,747,022...222,749,437

G

leucine rich repeat and Ig domain containing 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,154,152...127,164,591
Ensembl chr 1:130,803,557...130,805,338

G

limb and CNS expressed 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,799,811...121,824,492
Ensembl chr 1:113,848,433...113,869,882

G

lamin A/C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

leiomodin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,493,627...177,543,853
Ensembl chr 1:181,798,304...181,845,295

G

LIM homeobox transcription factor 1 alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:140,634,117...140,788,567
Ensembl chr 1:144,422,789...144,579,027

G

NADH-cytochrome b5 reductase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,563,539...178,568,997
Ensembl chr 1:182,858,966...182,864,381

G

small proline-rich protein 2F

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,454,540...128,454,965

G

left-right determination factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,347,411...201,351,295
Ensembl chr 1:206,348,419...206,350,787

G

olfactory receptor 2T27

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,323,029...224,323,979

G

olfactory receptor 2T3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,176,159...224,177,114

G

histone H3.3A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447

G

small proline-rich protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,344,876...128,346,965
Ensembl chr 1:131,976,194...131,976,679

G

olfactory receptor 2G6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,221,365...224,223,270

G

olfactory receptor 2T29

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,247,006...224,247,953

G

major histocompatibility complex class I-related gene protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:156,510,588...156,538,447
Ensembl chr 1:160,178,106...160,198,420

G

olfactory receptor 2T3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,262,226...224,263,191

G

olfactory receptor 2T11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,299,249...224,300,308
Ensembl chr 1:229,611,979...229,612,929

G

G patch domain-containing protein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,938,622...131,945,524
Ensembl chr 1:135,760,273...135,768,573

G

olfactory receptor 2T1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,108,483...224,109,592
Ensembl chr 1:229,552,860...229,553,969

G

olfactory receptor 2T6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,087,513...224,088,439

G

olfactory receptor 10J5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,881,761...134,883,765
Ensembl chr 1:138,679,477...138,680,406

G

cytochrome c oxidase assembly factor 6 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:209,913,610...209,914,929
Ensembl chr 1:214,934,998...214,944,496

G

histone H2A type 2-A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,195,328...125,195,894

G

olfactory receptor 14C36

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,985,485...223,986,423

G

olfactory receptor 2M7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,958,651...223,961,279
Ensembl chr 1:229,406,377...229,407,315

G

Fc receptor-like protein 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,153,911...135,167,699

G

olfactory receptor 2T12

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,909,375...223,910,514

G

histone H2A type 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,858,974...203,860,255
Ensembl chr 1:209,070,117...209,070,509

G

olfactory receptor 2M4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,825,158...223,878,087
Ensembl chr 1:229,320,924...229,321,859

G

olfactory receptor 2M3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,840,617...223,841,705
Ensembl chr 1:229,286,223...229,287,161

G

olfactory receptor 2L5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,667,423...223,668,361
Ensembl chr 1:229,113,516...229,114,454

G

neuroblastoma breakpoint family member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:122,521,697...122,547,069

G

solute carrier organic anion transporter family member 1B3

treatment

DNA:SNP:: (rs4149117) (human)

NCBI chr12:65,386,042...65,492,240

G

olfactory receptor 2L2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,683,642...223,684,959
Ensembl chr 1:229,129,871...229,130,808

G

tropomyosin alpha-3 chain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894

G

olfactory receptor 2L3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,705,902...223,707,148

G

olfactory receptor 11L1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,480,130...223,481,555

G

T-cell surface glycoprotein CD3 epsilon chain

CTD Direct Evidence: marker/mechanism

NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625

G

lymphotactin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,837,578...144,068,261
Ensembl chr 1:147,785,654...147,790,587

G

olfactory receptor 14A16

ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma

NCBI chr 1:223,453,971...223,473,186
Ensembl chr 1:228,903,785...228,904,717

G

olfactory receptor 6K6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,114,007...134,115,166
Ensembl chr 1:137,905,218...137,906,249

G

olfactory receptor 6N2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,136,240...134,149,018
Ensembl chr 1:137,927,394...137,928,347

G

olfactory receptor 1C1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,396,306...223,397,604
Ensembl chr 1:228,847,226...228,848,170

G

olfactory receptor 6N1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,125,010...134,126,024
Ensembl chr 1:137,916,230...137,917,168

G

olfactory receptor 2C3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,164,940...223,168,670
Ensembl chr 1:228,617,411...228,618,373

G

olfactory receptor 13G1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,305,811...223,306,844
Ensembl chr 1:228,757,473...228,758,512

G

olfactory receptor 6K3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,076,646...134,077,713
Ensembl chr 1:137,867,560...137,868,555

G

olfactory receptor 2G3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,239,171...223,240,150
Ensembl chr 1:228,691,088...228,692,017

G

olfactory receptor 6K2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,058,226...134,059,339
Ensembl chr 1:137,849,135...137,850,115

G

olfactory receptor 2G2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,222,012...223,222,965

G

olfactory receptor 10Z1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,965,449...133,966,390

G

olfactory receptor 10X1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,937,946...133,938,926

G

olfactory receptor 6F1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,339,289...223,340,215
Ensembl chr 1:228,790,801...228,791,727

G

olfactory receptor 6P1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,921,708...133,922,661
Ensembl chr 1:137,712,400...137,713,353

G

olfactory receptor 6Y1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,906,485...133,907,462

G

olfactory receptor 10K1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,824,084...133,825,628
Ensembl chr 1:137,614,782...137,615,723

G

carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,487,845...137,800,242
Ensembl chr 1:141,285,960...141,578,899

G

putative uncharacterized protein RUSC1-AS1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,662,834...130,668,707

G

olfactory receptor 10R2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,839,293...133,840,300
Ensembl chr 1:137,622,333...137,630,991

G

histone H2B type 2-F

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,100,206...125,156,882

G

C4b-binding protein alpha chain

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

NCBI chr 1:182,707,221...182,747,878
Ensembl chr 1:186,985,264...187,025,898

G

olfactory receptor 10K2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,778,444...133,780,214
Ensembl chr 1:137,569,108...137,570,046

G

olfactory receptor 10T2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,756,898...133,757,996

G

olfactory receptor 2B11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,086,246...223,088,103

G

histone H2B type 2-E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,228,579...125,230,881
Ensembl chr 1:128,886,807...128,887,187

G

histone H2A type 2-B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,231,498...125,233,088
Ensembl chr 1:128,888,065...128,888,457

G

T-cell surface glycoprotein CD1e, membrane-associated

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,712,012...133,716,093
Ensembl chr 1:137,502,315...137,506,799

G

metaxin-1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,553,631...130,558,744

G

myomegalin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:120,522,499...120,693,837

G

misato mitochondrial distribution and morphology regulator 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,079,871...131,084,486

G

olfactory receptor 2M5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,789,974...223,790,912

G

olfactory receptor 2L13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,571,149...224,063,599
Ensembl chr 1:229,190,146...229,191,084

G

low affinity immunoglobulin gamma Fc region receptor II-a

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,892,311...136,906,450

G

olfactory receptor 14I1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,352,344...224,356,860

G

Fc receptor-like protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,107,429...133,138,882
Ensembl chr 1:136,900,679...136,931,880

G

cytochrome c oxidase assembly protein COX20, mitochondrial

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:220,432,447...220,440,416
Ensembl chr 1:225,812,621...225,820,925

G

olfactory receptor 2W3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,496,569...223,557,096
Ensembl chr 1:228,978,322...228,979,266
Ensembl chr 1:228,978,322...228,979,266

G

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,461,799...67,491,300
Ensembl chr 4:74,031,397...74,059,857

G

ETS variant transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,464,426...132,481,638
Ensembl chr 1:136,285,256...136,302,330

G

protein FAM163A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,223,640...155,297,354
Ensembl chr 1:158,974,145...158,977,214

G

folate receptor alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr11:67,268,721...67,275,498
Ensembl chr11:70,492,039...70,498,665

G

torsin-1A-interacting protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,321,181...155,358,966
Ensembl chr 1:159,005,944...159,039,058

G

zinc finger protein 695

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,617,869...222,641,658
Ensembl chr 1:228,041,045...228,094,349

G

vomeronasal type-1 receptor 5-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,888,070...222,890,101
Ensembl chr 1:228,342,321...228,343,394

G

histone H2A type 2-C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,231,032...125,231,491
Ensembl chr 1:128,887,522...128,887,911

G

olfactory receptor 2AK2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,608,736...223,610,145

G

olfactory receptor 10J3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,666,022...134,667,393
Ensembl chr 1:138,463,455...138,464,676

G

histone H4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,196,600...125,205,588

G

complement factor H-related protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,355,204...172,389,914

G

complement factor H-related protein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,392,804...172,454,153

G

complement factor H-related protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,481,728...172,522,715

G

olfactory receptor 2T2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:224,155,362...224,156,403

G

histone H3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,196,255...125,197,305

G

E3 ubiquitin-protein ligase TRIM58

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

olfactory receptor 2T4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

histone H2B type 3-B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

late cornified envelope protein 1A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

Ensembl chr 1:131,803,002...131,803,334

G

loricrin cornified envelope precursor protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,607,506...128,608,808

G

lysophosphatidylglycerol acyltransferase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:187,312,071...187,399,145
Ensembl chr 1:192,179,164...192,262,799

G

leucine rich repeat containing 52

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:140,975,474...140,995,414
Ensembl chr 1:144,765,637...144,786,666

G

leucine rich repeat containing 71

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,262,548...132,276,435
Ensembl chr 1:136,086,679...136,098,709

G

leucine rich repeat neuronal 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,208,932...180,287,250
Ensembl chr 1:184,507,321...184,509,462

G

lymphocyte antigen 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,151,608...136,185,365
Ensembl chr 1:140,075,646...140,107,784

G

lysophospholipase like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:194,737,158...194,775,853
Ensembl chr 1:199,586,920...199,625,423

G

LysM domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,508,575...126,515,165
Ensembl chr 1:130,157,237...130,163,752

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:211,229,800...211,451,947
Ensembl chr 1:216,231,824...216,436,293

G

maelstrom spermatogenic transposon silencer

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:142,341,646...142,442,521
Ensembl chr 1:146,195,482...146,228,669

G

microtubule associated protein 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:208,352,323...208,357,555
Ensembl chr 1:213,371,044...213,374,187

G

microtubule associated protein 1 light chain 3 gamma

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:217,558,010...217,562,485
Ensembl chr 1:222,537,401...222,541,244

G

mitogen-activated protein kinase kinase kinase 21

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:208,861,949...208,920,381

G

MAPK activated protein kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,286,854...182,336,306
Ensembl chr 1:186,608,158...186,613,911

G

microtubule affinity regulating kinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:196,114,714...196,251,166
Ensembl chr 1:201,150,310...201,286,201

G

MCL1 apoptosis regulator, BCL2 family member

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086

G

MDM4 regulator of p53

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,117,364...180,151,144
Ensembl chr 1:184,406,124...184,439,344

G

myocyte enhancer factor 2D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,806,705...131,844,420
Ensembl chr 1:135,637,801...135,653,866

G

menin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

methyltransferase 13, eEF1A N-terminus and K55

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:147,279,795...147,295,884
Ensembl chr 1:150,986,851...151,005,571

G

methyltransferase 18, RPL3 N3(tau)-histidine

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:145,275,161...145,277,751
Ensembl chr 1:148,996,597...148,997,715

G

methyltransferase like 25B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,071,430...132,080,297
Ensembl chr 1:135,892,971...135,901,981

G

mex-3 RNA binding family member A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,414,225...131,424,680
Ensembl chr 1:135,247,776...135,254,034

G

major facilitator superfamily domain containing 4A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,177,517...181,211,432
Ensembl chr 1:185,474,032...185,497,408

G

microsomal glutathione S-transferase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:141,063,051...141,087,563
Ensembl chr 1:144,868,059...144,876,684

G

MIA SH3 domain ER export factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:198,291,200...198,339,502
Ensembl chr 1:203,304,237...203,354,919

G

MINDY lysine 48 deubiquitinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,346,260...126,356,992
Ensembl chr 1:129,994,561...130,006,066

G

Mix paired-like homeobox

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,682,488...201,686,358

G

MLLT11 transcription factor 7 cofactor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,408,533...126,417,624

G

mitochondrial pyruvate carrier 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,406,611...143,424,508
Ensembl chr 1:147,132,213...147,151,648

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 chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273

G

myelin protein zero like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,154,682...143,221,780
Ensembl chr 1:146,937,479...147,004,503

G

maestro heat like repeat family member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:146,425,586...146,557,901
Ensembl chr 1:150,141,104...150,273,143

G

mitochondrial ribosomal protein L24

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,080,651...132,084,541
Ensembl chr 1:135,902,324...135,906,245

G

mitochondrial ribosomal protein L55

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,508,861...203,511,486
Ensembl chr 1:208,720,030...208,722,668

G

mitochondrial ribosomal protein L9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,118,183...127,122,065
Ensembl chr 1:130,761,826...130,766,349

G

mitochondrial ribosomal protein S14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:150,524,532...150,535,053
Ensembl chr 1:154,222,744...154,233,292

G

mitochondrial ribosomal protein S21

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,639,064...125,653,722
Ensembl chr 1:129,289,680...129,304,596

G

mutS homolog 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:25227144 PMID:28492532

NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469

G

metallothionein 1H like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:212,568,334...212,568,824
Ensembl chr 1:217,566,250...217,566,435

G

mitochondrial amidoxime reducing component 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:196,373,028...196,405,115
Ensembl chr 1:201,407,390...201,435,186

G

mitochondrial amidoxime reducing component 2

ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma

NCBI chr 1:196,333,803...196,371,147
Ensembl chr 1:201,369,424...201,405,602

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

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

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

myotubularin related protein 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,273,431...125,281,903
Ensembl chr 1:128,929,631...128,937,890

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 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

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 chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322

G

mucin 1, cell surface associated

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

myosin binding protein H

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,769,183...178,777,737
Ensembl chr 1:183,065,021...183,072,188

G

myocilin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628

G

myogenin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,684,933...178,687,971
Ensembl chr 1:182,979,700...182,982,611

G

neuron navigator 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,136,609...177,424,075
Ensembl chr 1:181,547,017...181,718,626

G

NAD(P)HX epimerase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,935,295...131,937,843
Ensembl chr 1:135,758,868...135,761,416

G

NBPF member 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

neutrophil cytosolic factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,085,923...159,121,259
Ensembl chr 1:163,243,636...163,278,420

G

nicastrin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,697,592...135,713,293
Ensembl chr 1:139,618,229...139,633,911

G

N-deacetylase and N-sulfotransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668

G

NADH:ubiquinone oxidoreductase core subunit S2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705

G

nectin cell adhesion molecule 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,484,235...136,502,478
Ensembl chr 1:140,397,817...140,414,897

G

NIMA related kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:187,225,947...187,243,605
Ensembl chr 1:192,092,885...192,105,737

G

NIMA related kinase 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:173,752,892...173,918,258
Ensembl chr 1:178,138,925...178,228,197

G

neudesin neurotrophic factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:187,998,006...188,011,260

G

nestin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,012,273...132,020,907
Ensembl chr 1:135,835,456...135,844,094

G

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

DNA:loss of heterozygosity

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

G

neurofascin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,430,523...180,624,953
Ensembl chr 1:184,759,115...184,905,467

G

nescient helix-loop-helix 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,721,367...135,727,206
Ensembl chr 1:139,645,680...139,646,081

G

niban apoptosis regulator 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,320,707...160,497,649
Ensembl chr 1:164,479,202...164,581,494

G

nidogen 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:211,543,294...211,631,769
Ensembl chr 1:216,544,829...216,632,935

G

nitrilase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,530,490...136,533,619
Ensembl chr 1:140,443,763...140,449,831

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216

G

NME/NM23 family member 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:144,620,719...144,850,230
Ensembl chr 1:148,343,026...148,572,499

G

nicotinamide nucleotide adenylyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,768,949...158,948,711
Ensembl chr 1:162,929,609...163,105,524

G

neuromedin U

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:68,299,538...68,340,680
Ensembl chr 4:74,867,364...74,904,965

G

NPC intracellular cholesterol transporter 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,038,753...155,064,332

G

N-acetylneuraminate pyruvate lyase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,305,203...158,346,531
Ensembl chr 1:161,958,896...161,997,222

G

natriuretic peptide receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,034,972...129,050,439
Ensembl chr 1:132,664,948...132,679,327

G

nuclear receptor subfamily 1 group I member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,642,126...136,651,074
Ensembl chr 1:140,553,951...140,562,799

G

nuclear receptor subfamily 5 group A member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:175,625,140...175,775,955
Ensembl chr 1:179,934,573...180,083,607

G

NSL1 component of MIS12 kinetochore complex

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,304,093...188,360,642
Ensembl chr 1:193,157,969...193,219,655

G

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

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:145,635,789...145,658,564
Ensembl chr 1:149,352,738...149,374,488

G

nucleoside-triphosphatase, cancer-related

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:208,488,080...208,521,291
Ensembl chr 1:213,514,986...213,543,680

G

neurotrophic receptor tyrosine kinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

Ensembl chr 1:136,007,476...136,047,355

G

NUAK family kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,910,956...180,931,147
Ensembl chr 1:185,197,678...185,217,264

G

nuclear casein kinase and cyclin dependent kinase substrate 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,322,760...181,359,321
Ensembl chr 1:185,606,796...185,642,984

G

nudix hydrolase 17

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,911,517...121,915,127

G

NUF2 component of NDC80 kinetochore complex

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364

G

nucleoporin 133

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:204,985,690...205,053,072
Ensembl chr 1:210,017,649...210,084,746

G

nucleoporin 210 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,349,468...129,510,688
Ensembl chr 1:132,977,876...133,125,344

G

nuclear VCP like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,695,388...199,798,080
Ensembl chr 1:204,704,371...204,806,959

G

ornithine decarboxylase antizyme 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,121,375...127,129,940
Ensembl chr 1:130,765,290...130,773,859

G

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,605,558...203,781,491
Ensembl chr 1:208,825,607...208,992,246

G

odr-4 GPCR localization factor homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:161,903,661...162,054,747
Ensembl chr 1:166,059,265...166,098,209

G

olfactomedin like 2B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,401,323...137,442,611
Ensembl chr 1:141,200,355...141,241,629

G

opsin 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:217,155,765...217,202,577
Ensembl chr 1:222,136,422...222,184,598

G

opticin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,097,003...179,113,903
Ensembl chr 1:183,391,155...183,407,509

G

OTU deubiquitinase 7B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,282,599...125,355,441
Ensembl chr 1:128,944,782...128,976,474

G

proton activated chloride channel 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:187,928,923...187,980,274
Ensembl chr 1:192,790,932...192,843,577

G

peptidyl arginine deiminase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 1:16,011,708...16,064,344
Ensembl chr 1:17,067,729...17,120,513

G

pappalysin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:151,727,598...152,369,670
Ensembl chr 1:155,769,395...156,063,989

G

progestin and adipoQ receptor family member 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,586,557...131,591,263
Ensembl chr 1:135,416,530...135,421,662

G

poly(ADP-ribose) polymerase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

PBX homeobox 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:139,985,392...140,311,845
Ensembl chr 1:143,778,701...144,104,797

G

PBX homeobox interacting protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,292,611...130,304,667

G

pecanex 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:208,521,531...208,830,817
Ensembl chr 1:213,549,162...213,858,398

G

Purkinje cell protein 4 like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,670,879...136,696,039
Ensembl chr 1:140,582,726...140,607,520

G

phosducin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:161,969,161...161,976,816
Ensembl chr 1:166,122,181...166,145,947

G

phosducin like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:68,343,615...68,381,364
Ensembl chr 4:74,907,904...74,944,895

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:1279971 PMID:1720553 PMID:3152525 PMID:3152526 PMID:7529964 More...

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

G

PDZ domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:122,034,097...122,091,823
Ensembl chr 1:113,579,273...113,615,390

G

proliferation and apoptosis adaptor protein 15

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,559,273...135,569,392
Ensembl chr 1:139,480,394...139,490,503

G

platelet endothelial aggregation receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,236,550...132,259,273
Ensembl chr 1:136,069,341...136,080,165

G

peroxisomal biogenesis factor 11 beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,839,167...121,846,617
Ensembl chr 1:113,821,787...113,830,830

G

peroxisomal biogenesis factor 19

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,630,788...135,639,126
Ensembl chr 1:139,551,681...139,559,954

G

prefoldin subunit 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,512,982...136,530,524
Ensembl chr 1:140,426,205...140,443,773

G

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

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,655,487...182,683,881
Ensembl chr 1:186,934,446...186,961,995

G

piggyBac transposable element derived 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:205,869,632...205,974,330
Ensembl chr 1:210,897,173...211,000,555

G

peptidoglycan recognition protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,642,034...128,656,082
Ensembl chr 1:132,270,957...132,283,860

G

peptidoglycan recognition protein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,681,726...128,700,275
Ensembl chr 1:132,310,256...132,329,013

G

pleckstrin homology like domain family A member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,063,775...177,067,714
Ensembl chr 1:181,367,976...181,368,359

G

phosphatidylinositol 4-kinase beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,653,794...126,689,690
Ensembl chr 1:130,300,844...130,336,311

G

protein inhibitor of activated STAT 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,900,224...121,911,513
Ensembl chr 1:113,758,691...113,768,714

G

phosphatidylinositol glycan anchor biosynthesis class C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361

G

phosphatidylinositol glycan anchor biosynthesis class M

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,378,843...135,387,789

G

polymeric immunoglobulin receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,532,773...182,550,662
Ensembl chr 1:186,811,152...186,829,793

G

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

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,024,889...180,096,287
Ensembl chr 1:184,313,233...184,384,454

G

phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,547,793...126,598,618
Ensembl chr 1:130,195,974...130,246,198

G

pyruvate kinase L/R

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351

G

plakophilin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,881,154...176,930,814
Ensembl chr 1:181,182,829...181,232,347

G

phospholipase A2 group IVA

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101

G

phospholipase D family member 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:217,640,005...218,081,158

G

pleckstrin homology domain containing A6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,821,249...179,980,149
Ensembl chr 1:184,109,553...184,164,492

G

pleckstrin homology domain containing O1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,494,740...125,504,990
Ensembl chr 1:129,146,459...129,157,401

G

plexin A2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:183,600,533...183,848,418
Ensembl chr 1:188,408,048...188,603,208

G

peptidase M20 domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,437,045...181,459,103
Ensembl chr 1:185,720,642...185,742,757

G

polyamine modulated factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,556,843...131,583,180

G

phosphomevalonate kinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818

G

pogo transposable element derived with KRAB domain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:142,256,758...142,271,812
Ensembl chr 1:146,044,684...146,059,116

G

pogo transposable element derived with ZNF domain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,761,777...126,818,262
Ensembl chr 1:130,407,426...130,463,909

G

RNA polymerase III subunit C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,917,371...121,935,976
Ensembl chr 1:113,733,846...113,752,486

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,781,067...121,793,266
Ensembl chr 1:113,884,899...113,888,690

G

POU class 2 homeobox 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:142,653,296...142,860,572
Ensembl chr 1:146,439,581...146,633,921

G

phosphoribosyl pyrophosphate amidotransferase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,491,407...67,533,822
Ensembl chr 4:74,059,966...74,102,002

G

PTPRF interacting protein alpha 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,628,003...178,680,528
Ensembl chr 1:182,922,758...182,975,300

G

protoporphyrinogen oxidase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,578,846...136,590,466
Ensembl chr 1:140,491,667...140,502,328

G

protein phosphatase 1 regulatory subunit 12B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,945,674...178,185,871
Ensembl chr 1:182,243,497...182,482,216

G

protein phosphatase 1 regulatory subunit 15B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,002,895...180,014,956
Ensembl chr 1:184,293,640...184,302,316

G

protein phosphatase 2 regulatory subunit B'alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:187,853,674...187,926,318
Ensembl chr 1:192,716,546...192,788,328

G

proline rich mitotic checkpoint control factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,110,795...132,144,039
Ensembl chr 1:135,933,269...135,966,483

G

peroxiredoxin 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:148,988,836...149,000,345

G

proline and arginine rich end leucine rich repeat protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,077,892...179,092,796
Ensembl chr 1:183,372,028...183,386,619

G

proteoglycan 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:161,824,271...161,842,031

G

protein kinase AMP-activated non-catalytic subunit beta 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:122,577,308...122,595,083
Ensembl chr 1:112,934,877...112,952,364

G

prospero homeobox 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:189,556,124...189,609,297
Ensembl chr 1:194,412,980...194,460,763

G

pre-mRNA processing factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,666,604...125,698,591
Ensembl chr 1:129,320,605...129,348,214

G

proline rich 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,560,477...128,562,199

G

proline rich coiled-coil 2C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:146,979,651...147,089,506
Ensembl chr 1:150,693,780...150,801,477

G

paired related homeobox 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810

G

serine protease 38

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,185,888...203,249,622
Ensembl chr 1:208,195,825...208,226,371

G

prune exopolyphosphatase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,357,779...126,385,120
Ensembl chr 1:130,006,097...130,032,985

G

presenilin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:202,328,987...202,354,440
Ensembl chr 1:207,320,937...207,346,295

G

proteasome 20S subunit beta 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,758,604...126,760,989
Ensembl chr 1:130,404,234...130,406,638

G

proteasome 26S subunit ubiquitin receptor, non-ATPase 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,603,753...126,616,553
Ensembl chr 1:130,251,323...130,264,256

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

patched 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055

G

prostaglandin-endoperoxide synthase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

protein tyrosine phosphatase non-receptor type 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:189,925,706...190,120,232
Ensembl chr 1:194,780,068...194,887,798

G

protein tyrosine phosphatase non-receptor type 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,744,963...177,759,611
Ensembl chr 1:182,049,084...182,061,151

G

protein tyrosine phosphatase receptor type C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:174,246,389...174,364,893
Ensembl chr 1:178,556,104...178,672,994

G

pyrroline-5-carboxylate reductase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,381,270...201,385,703
Ensembl chr 1:206,381,539...206,386,002

G

pygopus family PHD finger 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,305,547...130,310,270
Ensembl chr 1:133,912,411...133,920,308

G

pyrin and HIN domain family member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,283,998...134,329,531
Ensembl chr 1:138,081,611...138,127,115

G

quiescin sulfhydryl oxidase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,641,793...155,687,231
Ensembl chr 1:159,313,245...159,358,672

G

RAB13, member RAS oncogene family

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,338,524...129,343,234
Ensembl chr 1:132,967,363...132,972,067

G

RAB23, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr 6:56,744,948...56,780,187
Ensembl chr 6:58,375,559...58,411,107

G

RAB25, member RAS oncogene family

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,403,058...131,412,722
Ensembl chr 1:135,232,544...135,241,732

G

RAB29, member RAS oncogene family

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,377,018...181,384,496
Ensembl chr 1:185,661,317...185,668,066

G

RAB3 GTPase activating non-catalytic protein subunit 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819

G

RAB4A, member RAS oncogene family

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:204,818,445...204,849,775
Ensembl chr 1:209,848,620...209,883,305

G

RAB GTPase activating protein 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,676,356...150,506,884
Ensembl chr 1:153,437,265...154,199,810

G

RAB interacting factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,479,806...178,488,599
Ensembl chr 1:182,774,480...182,783,647

G

Ral GEF with PH domain and SH3 binding motif 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:154,224,362...154,411,202
Ensembl chr 1:157,916,856...158,097,550

G

RAS protein activator like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:153,609,277...153,986,155
Ensembl chr 1:157,303,646...157,670,415

G

Ras association domain family member 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,107,396...182,191,346
Ensembl chr 1:186,388,571...186,471,134

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

RB binding protein 5, histone lysine methyltransferase complex subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,688,220...180,724,087
Ensembl chr 1:184,974,254...185,010,065

G

RNA binding motif protein 34

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:210,676,840...210,706,360
Ensembl chr 1:215,695,166...215,723,408

G

RNA binding motif protein 8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,830,424...121,836,378
Ensembl chr 1:113,834,110...113,839,429

G

ring finger and CCCH-type domains 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,454,748...149,539,566
Ensembl chr 1:153,160,661...153,213,402

G

REST corepressor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:186,822,259...186,879,534
Ensembl chr 1:191,686,125...191,743,487

G

RCSD domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,062,602...143,138,987
Ensembl chr 1:146,899,485...146,921,977

G

RD3 regulator of GUCY2D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:187,044,054...187,060,441
Ensembl chr 1:191,907,989...191,924,365

G

renin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393

G

RE1 silencing transcription factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:66,984,466...67,012,301
Ensembl chr 4:73,526,085...73,582,242

G

regulatory factor X5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,699,772...126,706,486
Ensembl chr 1:130,345,977...130,352,317

G

ral guanine nucleotide dissociation stimulator like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,166,090...159,457,883
Ensembl chr 1:163,429,258...163,614,657

G

regulator of G protein signaling 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:168,039,235...168,043,516
Ensembl chr 1:172,333,866...172,337,401

G

regulator of G protein signaling 13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:168,073,338...168,124,215
Ensembl chr 1:172,395,240...172,419,307

G

regulator of G protein signaling 16

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,117,257...158,123,031
Ensembl chr 1:161,765,595...161,774,709

G

regulator of G protein signaling 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:167,620,514...167,648,917
Ensembl chr 1:171,915,531...171,943,674

G

regulator of G protein signaling 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:168,273,112...168,276,348
Ensembl chr 1:172,566,701...172,569,955

G

regulator of G protein signaling 21

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:167,785,840...167,836,026
Ensembl chr 1:172,080,852...172,130,971

G

regulator of G protein signaling 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:138,488,317...138,496,497
Ensembl chr 1:142,284,040...142,292,225

G

regulator of G protein signaling 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:138,561,940...138,622,698
Ensembl chr 1:142,362,663...142,387,291

G

regulator of G protein signaling 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:216,329,373...216,919,898
Ensembl chr 1:221,313,924...221,899,627

G

regulator of G protein signaling 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,160,368...158,268,521
Ensembl chr 1:161,813,540...161,855,027

G

regulator of G protein signaling like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:157,967,552...158,079,341
Ensembl chr 1:161,619,801...161,730,852

G

Rh family B glycoprotein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,710,282...131,728,487
Ensembl chr 1:135,538,519...135,555,803

G

regulator of hemoglobinization and erythroid cell expansion

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,704,422...181,709,056
Ensembl chr 1:185,973,510...185,992,391

G

ras homolog family member U

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:204,282,231...204,293,758

G

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

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,069,400...127,087,588
Ensembl chr 1:130,716,270...130,731,287

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942

G

ribonuclease L

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045

G

ring finger protein 115

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,936,054...122,016,273
Ensembl chr 1:113,651,728...113,733,788

G

ring finger protein 187

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,889,146...203,896,884
Ensembl chr 1:209,070,822...209,071,202
Ensembl chr 1:209,070,822...209,071,202

G

ring finger protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,568,438...160,626,783
Ensembl chr 1:164,721,458...164,779,420

G

arginyl aminopeptidase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,579,349...177,602,865
Ensembl chr 1:181,880,404...181,903,906

G

Ro60, Y RNA binding protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:168,518,796...168,551,137
Ensembl chr 1:172,811,822...172,838,373

G

RAR related orphan receptor C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,164,725...127,190,479
Ensembl chr 1:130,808,705...130,834,490

G

ribosomal protein L24

CTD Direct Evidence: marker/mechanism

NCBI chr 3:98,769,830...98,775,532
Ensembl chr 3:105,449,515...105,455,135

G

regulation of nuclear pre-mRNA domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,709,535...125,821,872
Ensembl chr 1:129,359,202...129,469,899

G

ribosomal protein S27

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,347,650...129,349,050
Ensembl chr 1:132,975,795...132,977,192

G

ribosomal protein S6 kinase C1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,622,154...188,834,327
Ensembl chr 1:193,479,905...193,689,809

G

repetin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,512,265...127,518,017

G

ribosomal RNA processing 15 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:193,846,921...193,900,077
Ensembl chr 1:198,698,850...198,745,011

G

RUN and SH3 domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,665,390...130,675,635
Ensembl chr 1:134,270,420...134,280,592

G

relaxin family peptide/INSL5 receptor 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,275,631...131,279,593
Ensembl chr 1:135,106,884...135,108,008

G

retinoid X receptor gamma

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:140,832,717...140,877,046
Ensembl chr 1:144,623,133...144,723,494

G

ryanodine receptor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

S100 calcium binding protein A1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,984,296...128,987,979

G

S100 calcium binding protein A10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,341,974...127,353,054
Ensembl chr 1:130,985,312...130,995,130

G

S100 calcium binding protein A11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,391,695...127,396,231
Ensembl chr 1:131,034,588...131,035,882

G

S100 calcium binding protein A12

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,725,102...128,727,021
Ensembl chr 1:132,354,132...132,356,085

G

S100 calcium binding protein A13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,973,910...128,984,234
Ensembl chr 1:132,602,772...132,616,373

G

S100 calcium binding protein A14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,969,353...128,972,484
Ensembl chr 1:132,597,623...132,600,360

G

S100 calcium binding protein A16

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,961,978...128,968,230
Ensembl chr 1:132,590,360...132,592,827

G

S100 calcium binding protein A2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,916,535...128,942,052
Ensembl chr 1:132,545,370...132,550,083

G

S100 calcium binding protein A3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,902,495...128,904,247
Ensembl chr 1:132,531,579...132,533,508

G

S100 calcium binding protein A4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,898,765...128,901,042
Ensembl chr 1:132,527,846...132,530,122

G

S100 calcium binding protein A5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,892,317...128,896,879
Ensembl chr 1:132,521,394...132,525,991

G

S100 calcium binding protein A6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,889,749...128,891,425
Ensembl chr 1:132,518,834...132,520,499

G

S100 calcium binding protein A8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,741,378...128,742,520
Ensembl chr 1:132,370,435...132,371,591

G

S100 calcium binding protein A9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,709,175...128,712,461
Ensembl chr 1:132,338,246...132,341,497

G

spalt like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:72,381,249...72,403,789

G

secretory carrier membrane protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,601,017...130,607,373
Ensembl chr 1:134,206,577...134,212,800

G

saccharopine dehydrogenase (putative)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,351,645...222,394,804
Ensembl chr 1:227,819,720...227,862,048

G

SCY1 like pseudokinase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:145,299,266...145,383,511
Ensembl chr 1:149,057,194...149,095,445

G

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132

G

SDE2 telomere maintenance homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,443,945...201,460,668
Ensembl chr 1:206,441,517...206,457,679

G

succinate dehydrogenase complex flavoprotein subunit A

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...

Ensembl chr 5:356,087...399,923

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 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

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 chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

G

SEC16 homolog B, endoplasmic reticulum export factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:153,445,298...153,555,082
Ensembl chr 1:157,139,709...157,179,830

G

selectin E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313

G

selenium binding protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,723,445...126,731,852
Ensembl chr 1:130,369,065...130,377,419

G

selectin L

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393

G

selectin P

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701

G

semaphorin 4A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,489,446...131,519,864
Ensembl chr 1:135,321,288...135,350,724

G

semaphorin 6C

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,480,899...126,496,032
Ensembl chr 1:130,128,185...130,138,458

G

serpin family C member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369

G

SERTA domain containing 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,789,513...185,803,679
Ensembl chr 1:190,663,690...190,672,666

G

SET domain containing 2, histone lysine methyltransferase

exacerbates

DNA:mutations:multiple (human)

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

G

SET domain bifurcated histone lysine methyltransferase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442

G

splicing factor 3b subunit 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,268,113...125,273,405
Ensembl chr 1:128,924,317...128,929,610

G

SFT2 domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,711,788...143,800,206
Ensembl chr 1:147,437,627...147,454,541

G

SH2 domain containing 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,809,079...137,836,330

G

SH2 domain containing 2A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,149,450...132,160,280
Ensembl chr 1:135,972,824...135,981,754

G

SHC adaptor protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008

G

SHC binding and spindle associated 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,416,397...158,470,003
Ensembl chr 1:162,067,996...162,629,927

G

Src homology 2 domain containing E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,834,422...129,857,317
Ensembl chr 1:133,446,417...133,469,841

G

sonic hedgehog signaling molecule

disease_progression

NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651

G

shisa family member 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,485,825...177,489,458
Ensembl chr 1:181,787,839...181,791,472

G

serine hydroxymethyltransferase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220

G

signal induced proliferation associated 1 like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:207,944,776...208,180,227
Ensembl chr 1:212,966,023...213,101,179

G

signaling lymphocytic activation molecule family member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,963,748...136,002,982
Ensembl chr 1:139,888,772...139,925,461

G

SLAM family member 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,838,862...135,878,207
Ensembl chr 1:139,761,121...139,799,348

G

SLAM family member 7

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,094,600...136,110,360
Ensembl chr 1:140,017,185...140,033,096

G

SLAM family member 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,178,241...135,189,005

G

SLAM family member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,303,534...135,306,012
Ensembl chr 1:139,224,139...139,226,614

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 chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752

G

solute carrier family 19 member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:144,946,248...144,968,736
Ensembl chr 1:148,668,687...148,690,713

G

solute carrier family 25 member 44

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,535,399...131,556,750
Ensembl chr 1:135,366,049...135,387,643

G

solute carrier family 26 member 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,521,826...181,544,564
Ensembl chr 1:185,807,517...185,828,444

G

solute carrier family 27 member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,131,843...129,136,746
Ensembl chr 1:132,759,952...132,765,194

G

solute carrier family 30 member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:187,139,544...187,147,113

G

solute carrier family 30 member 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:195,480,707...195,528,243
Ensembl chr 1:200,522,554...200,566,228

G

solute carrier family 35 member F3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:209,442,942...209,865,001
Ensembl chr 1:214,471,590...214,887,150

G

solute carrier family 39 member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,304,237...129,315,484
Ensembl chr 1:132,944,346...132,952,951
Ensembl chr 1:132,944,346...132,952,951

G

solute carrier family 41 member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,398,145...181,422,830
Ensembl chr 1:185,681,822...185,705,844

G

solute carrier family 45 member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,266,533...181,289,536
Ensembl chr 1:185,552,015...185,566,359

G

solute carrier family 50 member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,483,056...130,486,534
Ensembl chr 1:134,092,045...134,095,233

G

solute carrier family 9 member C2 (putative)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,012,063...149,127,843
Ensembl chr 1:152,718,175...152,826,534

G

sperm mitochondria associated cysteine rich protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,222,932...128,229,417
Ensembl chr 1:131,859,238...131,859,588

G

SMG5 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,592,368...131,634,443
Ensembl chr 1:135,422,268...135,455,734

G

SMG7 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,002,363...159,084,572
Ensembl chr 1:163,159,362...163,242,285

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

G

SET and MYND domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:189,849,167...189,905,193
Ensembl chr 1:194,729,116...194,761,045

G

SET and MYND domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:221,371,348...222,125,774
Ensembl chr 1:226,737,960...227,481,191

G

synaptosome associated protein 47

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,128,827...203,181,521
Ensembl chr 1:208,115,118...208,161,139

G

SNAP associated protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,014,668...129,018,428
Ensembl chr 1:132,644,320...132,647,095

G

small nuclear ribonucleoprotein polypeptide E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937

G

sorting nexin 27

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,968,370...127,052,942
Ensembl chr 1:130,612,787...130,695,863

G

sterol O-acyltransferase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909

G

SRY-box transcription factor 13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,675,017...179,730,628
Ensembl chr 1:184,003,907...184,016,504

G

spermatogenesis associated 17

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:193,205,670...193,437,171
Ensembl chr 1:198,059,692...198,287,313

G

spermatogenesis associated 45

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,399,017...188,425,336
Ensembl chr 1:193,257,857...193,263,654

G

spermatogenesis associated 46

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,785,032...137,790,863
Ensembl chr 1:141,585,288...141,588,306

G

serine peptidase inhibitor Kazal type 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,101,686...67,113,671

G

sperm microtubule associated protein 2 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,317,663...67,392,019
Ensembl chr 4:73,888,059...73,961,523

G

sperm microtubule inner protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:219,964,465...220,001,843
Ensembl chr 1:225,346,231...225,382,166

G

small proline rich protein 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,374,301...128,375,993
Ensembl chr 1:132,005,471...132,005,740

G

small proline rich protein 2G

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,492,168...128,606,586

G

small proline rich protein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:128,312,047...128,315,258
Ensembl chr 1:131,944,611...131,944,856

G

SprT-like N-terminal domain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,889,897...206,906,047
Ensembl chr 1:211,914,082...211,931,093

G

spectrin alpha, erythrocytic 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927

G

steroid 5 alpha-reductase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:68,565,400...68,591,400
Ensembl chr 4:75,131,196...75,155,347

G

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,808,318...182,064,583
Ensembl chr 1:186,092,113...186,346,019

G

signal recognition particle 72

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:67,420,551...67,456,065
Ensembl chr 4:73,989,304...74,025,906

G

signal recognition particle 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,238,977...201,251,606
Ensembl chr 1:206,240,484...206,252,854

G

signal sequence receptor subunit 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,349,072...131,361,008

G

stromal interaction molecule 1

ameliorates

human cells in mouse model

NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224

G

serine/threonine kinase 36

CTD Direct Evidence: marker/mechanism

NCBI chr2B:105,930,030...105,960,718
Ensembl chr2B:224,525,226...224,555,583

G

stum, mechanosensory transduction mediator homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:202,007,541...202,068,868

G

syntaxin 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:156,450,202...156,500,143
Ensembl chr 1:160,117,825...160,167,314

G

serine/threonine/tyrosine interacting like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:142,515,889...142,551,807
Ensembl chr 1:146,301,600...146,336,497

G

SUN domain containing ossification factor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:148,030,922...148,112,755
Ensembl chr 1:151,739,934...151,821,285

G

SUFU negative regulator of hedgehog signaling

CTD Direct Evidence: marker/mechanism

NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472

G

sushi domain containing 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:198,899,771...199,043,215
Ensembl chr 1:203,911,484...204,054,448

G

synaptic vesicle glycoprotein 2A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,247,429...125,262,041
Ensembl chr 1:128,904,151...128,918,829

G

SWT1 RNA endoribonuclease homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,681,681...160,817,733
Ensembl chr 1:164,833,911...164,970,144

G

synaptotagmin 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,193,999...131,218,752
Ensembl chr 1:135,026,032...135,046,943

G

synaptotagmin 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,508,466...185,735,732
Ensembl chr 1:190,386,089...190,596,464

G

synaptotagmin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,187,872...178,308,522
Ensembl chr 1:182,490,401...182,538,123

G

transcriptional adaptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:142,273,856...142,296,775
Ensembl chr 1:146,061,155...146,083,348

G

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

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:198,227,332...198,263,133
Ensembl chr 1:203,244,796...203,276,872

G

TATA-box binding protein associated factor 5 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:205,137,767...205,170,704
Ensembl chr 1:210,168,379...210,200,903

G

transgelin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,269,954...135,277,421
Ensembl chr 1:139,190,519...139,197,953

G

TAR (HIV-1) RNA binding protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:209,957,637...210,018,398
Ensembl chr 1:214,951,792...215,039,121

G

threonyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,832,693...125,852,918
Ensembl chr 1:129,480,824...129,501,639

G

TatD DNase domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,359,759...188,385,532
Ensembl chr 1:193,219,694...193,244,612

G

tubulin folding cofactor E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613

G

trichohyalin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,464,436...127,472,690

G

trichohyalin like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,442,837...127,447,753
Ensembl chr 1:131,085,544...131,090,456

G

tudor domain containing 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,857,124...129,903,134
Ensembl chr 1:133,469,613...133,515,193

G

tudor domain containing 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,080,083...155,171,734
Ensembl chr 1:158,761,013...158,852,660

G

tudor and KH domain containing

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,128,857...127,149,197
Ensembl chr 1:130,774,515...130,792,942

G

transmembrane epididymal protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:157,897,568...157,917,608
Ensembl chr 1:161,550,771...161,569,394

G

telomerase reverse transcriptase

susceptibility

DNA:SNP: :rs2736098(human)

Ensembl chr 5:1,300,960...1,338,872

G

testis expressed 35

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:154,017,637...154,036,483
Ensembl chr 1:157,710,118...157,720,659

G

transcription factor B2, mitochondrial

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,157,251...222,184,186
Ensembl chr 1:227,512,367...227,538,060

G

transforming growth factor beta 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

G

transforming growth factor beta receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

thrombospondin 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,540,486...130,553,534
Ensembl chr 1:134,148,468...134,160,245

G

thioesterase superfamily member 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,229,378...127,268,884
Ensembl chr 1:130,876,364...130,912,751

G

thioesterase superfamily member 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:127,205,721...127,212,112
Ensembl chr 1:130,849,815...130,856,523

G

translocase of inner mitochondrial membrane 17A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,552,399...177,567,148
Ensembl chr 1:181,854,412...181,868,960

G

TOR signaling pathway regulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,666,013...143,689,490
Ensembl chr 1:147,391,890...147,415,425

G

toll like receptor 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:198,787,046...198,819,537
Ensembl chr 1:203,798,767...203,801,343

G

transmembrane and coiled-coil domain family 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,836,861...180,882,276
Ensembl chr 1:185,123,484...185,168,975

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794

G

transmembrane protein 165

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 4:68,484,896...68,541,808
Ensembl chr 4:75,075,427...75,104,629

G

transmembrane protein 17

CTD Direct Evidence: marker/mechanism

NCBI chr2A:62,580,872...62,587,936
Ensembl chr2A:63,710,004...63,716,422

G

transmembrane protein 183A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,608,896...178,626,376
Ensembl chr 1:182,903,898...182,919,283

G

transmembrane protein 231

CTD Direct Evidence: marker/mechanism

NCBI chr16:56,107,360...56,126,172
Ensembl chr16:75,455,303...75,473,874

G

transmembrane protein 63A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:201,306,608...201,344,627
Ensembl chr 1:206,307,554...206,343,458

G

transmembrane protein 79

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,625,864...131,635,370
Ensembl chr 1:135,455,766...135,465,426

G

transmembrane protein 81

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,685,214...180,686,789
Ensembl chr 1:184,972,046...184,972,813

G

transmembrane protein 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,734,640...176,771,476
Ensembl chr 1:181,037,050...181,056,841

G

tropomodulin 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,519,159...126,525,502
Ensembl chr 1:130,167,570...130,173,663

G

TNF alpha induced protein 8 like 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,504,849...126,508,578
Ensembl chr 1:130,156,187...130,156,741

G

TNF superfamily member 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

TNF superfamily member 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845

G

tenascin N

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:150,580,248...150,661,687
Ensembl chr 1:154,278,714...154,357,823

G

troponin I1, slow skeletal type

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,006,262...177,054,525
Ensembl chr 1:181,309,609...181,314,889

G

troponin T2, cardiac type

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,957,298...176,976,033

G

tenascin R

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:150,826,892...151,257,301
Ensembl chr 1:154,532,582...154,615,538

G

translocase of outer mitochondrial membrane 20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:210,654,256...210,674,157
Ensembl chr 1:215,672,544...215,692,471

G

translocase of outer mitochondrial membrane 40 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,637,976...136,643,054
Ensembl chr 1:140,550,223...140,555,025

G

torsin 1A interacting protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,362,806...155,401,185
Ensembl chr 1:159,043,072...159,081,408

G

torsin family 3 member A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:154,563,795...154,578,339
Ensembl chr 1:158,255,410...158,271,166

G

tumor protein p53 binding protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,403,194...199,469,079
Ensembl chr 1:204,414,218...204,457,739

G

translocated promoter region, nuclear basket protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:161,842,037...161,903,567
Ensembl chr 1:165,993,726...166,055,223

G

TRAF3 interacting protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,332,556...185,358,653
Ensembl chr 1:190,141,928...190,162,598

G

TNF receptor associated factor 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:186,889,615...186,938,416
Ensembl chr 1:191,754,652...191,802,075

G

tripartite motif containing 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,795,924...203,809,703
Ensembl chr 1:209,006,979...209,019,994

G

tripartite motif containing 17

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,808,933...203,818,936
Ensembl chr 1:209,020,655...209,029,965

G

tripartite motif containing 46

ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma

NCBI chr 1:130,521,472...130,532,636
Ensembl chr 1:134,129,984...134,142,362

G

tripartite motif containing 67

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,710,490...206,770,111

G

tRNA methyltransferase 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,642,659...160,681,709
Ensembl chr 1:164,795,113...164,833,940

G

TSSK6 activating cochaperone

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,679,671...131,709,720
Ensembl chr 1:135,509,160...135,516,912

G

tRNA splicing endonuclease subunit 15

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,580,580...159,624,695
Ensembl chr 1:163,736,803...163,759,337

G

translin associated factor X

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:207,082,890...207,120,706
Ensembl chr 1:212,104,927...212,142,691

G

thiosulfate sulfurtransferase like domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,441,679...136,443,213
Ensembl chr 1:140,363,881...140,365,295

G

tetratricopeptide repeat domain 13

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:206,454,877...206,527,628
Ensembl chr 1:211,481,786...211,536,837

G

tetratricopeptide repeat domain 24

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,925,121...131,931,589
Ensembl chr 1:135,747,196...135,754,227

G

tuftelin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,898,611...126,941,893
Ensembl chr 1:130,543,043...130,586,147

G

TUB like protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,012,890...3,061,831
Ensembl chr12:2,944,769...2,993,278

G

thioredoxin interacting protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:121,763,312...121,767,468

G

UDP-N-acetylglucosamine pyrophosphorylase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,978,615...138,016,098
Ensembl chr 1:141,775,920...141,812,852

G

ubiquitin associated protein 2 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,575,115...129,626,565
Ensembl chr 1:133,189,194...133,240,090

G

ubiquitin conjugating enzyme E2 Q1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:129,904,971...129,913,640
Ensembl chr 1:133,515,618...133,525,390

G

ubiquitin conjugating enzyme E2 T

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,929,298...177,939,027
Ensembl chr 1:182,227,166...182,236,712

G

ubiquilin 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,374,635...131,395,986
Ensembl chr 1:135,209,490...135,225,666

G

ubiquitin C-terminal hydrolase L5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:168,471,501...168,519,366
Ensembl chr 1:172,764,606...172,811,880

G

uridine-cytidine kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:141,259,057...141,343,122
Ensembl chr 1:145,110,434...145,131,894

G

ubiquitin-fold modifier conjugating enzyme 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,545,095...136,571,327
Ensembl chr 1:140,479,007...140,484,143

G

U2AF homology motif kinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:137,910,547...137,942,445
Ensembl chr 1:141,707,926...141,733,195

G

URB2 ribosome biogenesis homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:205,170,805...205,204,644
Ensembl chr 1:210,202,498...210,234,815

G

upstream transcription factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,451,829...136,458,543
Ensembl chr 1:140,365,500...140,371,861

G

usherin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216

G

ubiquitin specific peptidase 21

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,571,967...136,578,196
Ensembl chr 1:140,484,742...140,491,004

G

UTP25 small subunit processome component

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,403,715...185,433,830
Ensembl chr 1:190,268,857...190,292,980

G

vesicle associated membrane protein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:147,192,001...147,233,945
Ensembl chr 1:150,903,134...150,944,815

G

VANGL planar cell polarity protein 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,754,897...135,783,031
Ensembl chr 1:139,683,745...139,704,281

G

vasohibin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:188,512,970...188,554,037
Ensembl chr 1:193,371,541...193,411,540

G

VHL like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,641,713...131,642,132

G

vacuolar protein sorting 45 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:125,412,566...125,490,615
Ensembl chr 1:129,063,462...129,142,990

G

vacuolar protein sorting 72 homolog

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,525,642...126,539,432
Ensembl chr 1:130,174,051...130,187,785

G

V-set and immunoglobulin domain containing 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,185,990...135,221,407
Ensembl chr 1:139,126,959...139,135,206

G

WD repeat domain 26

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:199,853,860...199,903,474
Ensembl chr 1:204,861,784...204,914,538

G

WD repeat domain 64

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:217,214,176...217,364,983
Ensembl chr 1:222,194,990...222,344,758

G

Wnt family member 3A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,409,294...203,463,214
Ensembl chr 1:208,628,706...208,674,469

G

Wnt family member 9A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:203,320,990...203,350,599
Ensembl chr 1:208,300,609...208,327,191

G

xenotropic and polytropic retrovirus receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:156,121,029...156,367,565
Ensembl chr 1:159,790,170...160,029,208

G

YOD1 deubiquitinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,621,404...182,635,619
Ensembl chr 1:186,930,209...186,932,225
Ensembl chr 1:186,930,209...186,932,225

G

YY1 associated protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,995,949...131,024,985
Ensembl chr 1:134,594,908...134,623,588

G

zinc finger BED-type containing 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,400,520...179,405,501
Ensembl chr 1:183,691,160...183,694,099

G

zinc finger and BTB domain containing 11

CTD Direct Evidence: marker/mechanism

NCBI chr 3:98,738,205...98,765,901
Ensembl chr 3:105,417,699...105,446,959

G

zinc finger and BTB domain containing 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259

G

zinc finger and BTB domain containing 37

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:149,386,001...149,406,436
Ensembl chr 1:153,090,898...153,109,767

G

zinc finger and BTB domain containing 41

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,744,414...172,794,350
Ensembl chr 1:177,063,464...177,107,715

G

zinc finger and BTB domain containing 7B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,350,798...130,366,690
Ensembl chr 1:133,959,847...133,975,729

G

zinc finger CCCH-type containing 11A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,399,533...179,458,811
Ensembl chr 1:183,710,919...183,746,214

G

zinc finger protein 124

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,769,721...222,803,641
Ensembl chr 1:228,224,243...228,258,042

G

zinc finger protein 281

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,004,142...176,009,291

G

zinc finger protein 496

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,929,917...222,965,629
Ensembl chr 1:228,384,527...228,422,390

G

zinc finger protein 648

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:157,546,709...157,560,498
Ensembl chr 1:161,208,135...161,209,841

G

zinc finger protein 669

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,736,362...222,740,763
Ensembl chr 1:228,191,849...228,195,665

G

zinc finger protein 670

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:222,673,657...222,715,207
Ensembl chr 1:228,129,902...228,171,119

G

zinc finger protein 678

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:202,996,574...203,091,804

G

zinc finger protein 687

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:126,643,627...126,654,154
Ensembl chr 1:130,294,126...130,300,949

G

zona pellucida glycoprotein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:213,435,888...213,444,439
Ensembl chr 1:218,428,967...218,442,383

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426

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 chr2B:827,184...900,424
Ensembl chr2B:114,373,392...114,445,729

G

adhesion G protein-coupled receptor B1

treatment

mRNA:decreased expression:brain:

PMID:12507886 PMID:16244591

RGD:13831352 RGD:13831355

NCBI chr 8:139,154,065...139,251,115
Ensembl chr 8:142,220,827...142,301,070

G

adhesion G protein-coupled receptor L4

treatment
severity

PMID:23096411 PMID:27416955

RGD:13838664 RGD:13838665

NCBI chr 1:78,099,504...78,216,060
Ensembl chr 1:80,236,040...80,353,157

G

AKT serine/threonine kinase 1

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

AKT serine/threonine kinase 3

disease_progression

NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

arrestin beta 2

ameliorates

NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517

G

assembly factor for spindle microtubules

mRNA:increased expression:brain:

NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATRX chromatin remodeler

disease_progression

ClinVar Annotator: match by term: Glioblastoma multiforme, somatic

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

BAG cochaperone 3

treatment

NCBI chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

G

beclin 1

disease_progression

NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286

G

basic helix-loop-helix family member e40

CTD Direct Evidence: marker/mechanism

NCBI chr 3:4,927,487...4,933,215
Ensembl chr 3:5,028,515...5,032,470

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:26455392 PMID:27388964

NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600

G

bromodomain containing 7

protein:increased expression:brain:

NCBI chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

G

chromobox 6

disease_progression

mRNA,protein:decreased expression:astrocyte:

NCBI chr22:19,774,136...19,784,937
Ensembl chr22:37,595,940...37,601,679

G

chromobox 7

disease_progression

mRNA,protein:decreased expression:astrocyte:

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

chromobox 8

mRNA:increased expression:astrocyte:

NCBI chr17:73,874,618...73,877,347
Ensembl chr17:79,410,967...79,413,691

G

cyclin H

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149

G

CD9 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385

G

cyclin dependent kinase 4

DNA:amplication

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

cyclin dependent kinase 6

severity

CTD Direct Evidence: marker/mechanism

PMID:10884881 PMID:20534551

NCBI chr 7:84,603,419...84,835,082

G

cyclin dependent kinase inhibitor 2A

treatment

NCBI chr 9:21,803,862...21,831,322

G

chromatin assembly factor 1 subunit B

protein:increased expression:brain:

NCBI chr21:22,755,721...22,786,958
Ensembl chr21:36,113,971...36,143,575

G

chitinase 3 like 1

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

PMID:11161003 PMID:21029458

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

carboxypeptidase E

disease_progression

mRNA, protein:decreased expression:brain tumor (human)

NCBI chr 4:157,575,157...157,705,173
Ensembl chr 4:169,659,007...169,780,739

G

cytoplasmic polyadenylation element binding protein 1

disease_progression

NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948

G

CREB binding protein

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

cystatin A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:119,417,489...119,432,244
Ensembl chr 3:126,323,901...126,338,430

G

cystatin B

CTD Direct Evidence: marker/mechanism

NCBI chr21:30,030,359...30,032,899

G

catenin delta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:11,288,652...12,227,569

G

cathepsin B

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

PMID:17898873 PMID:22287159

NCBI chr 8:7,333,498...7,359,264

G

cathepsin H

protein:increased expression:brain

NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976

G

cathepsin K

CTD Direct Evidence: marker/mechanism

NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

deuterosome assembly protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:88,357,292...88,459,239
Ensembl chr11:91,846,096...91,946,993

G

deleted in malignant brain tumors 1

DNA:deletion

NCBI chr10:119,129,440...119,200,232
Ensembl chr10:122,540,855...123,474,497

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Glioblastoma

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

dual specificity phosphatase 6

CTD Direct Evidence: marker/mechanism

NCBI chr12:86,875,289...86,879,731
Ensembl chr12:90,195,482...90,200,321

G

E2F transcription factor 1

disease_progression

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

G

epidermal growth factor

susceptibility

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

PMID:16598420 PMID:22481252

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

G

epidermal growth factor receptor

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

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

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

severity

protein:increased expression:brain (human)

NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

fatty acid binding protein 7

severity

mRNA, protein:increased expression:brain (human)

NCBI chr 6:120,539,905...120,574,778
Ensembl chr 6:124,663,054...124,697,905

G

family with sequence similarity 83 member D

CTD Direct Evidence: marker/mechanism

NCBI chr20:35,251,338...35,278,057
Ensembl chr20:36,357,610...36,384,355

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Glioblastoma

NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

fms related receptor tyrosine kinase 3 ligand

treatment

NCBI chr19:46,486,169...46,499,008

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

FOS like 2, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397

G

frataxin

NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362

G

glutamate ionotropic receptor kainate type subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:98,720,430...99,903,582
Ensembl chr 6:103,334,707...103,783,092

G

HEAT repeat containing 1

mRNA, protein:increased expression:brain

NCBI chr 1:212,110,229...212,164,299
Ensembl chr 1:217,109,359...217,164,791

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

homeobox D10

CTD Direct Evidence: marker/mechanism

NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963

G

HRas proto-oncogene, GTPase

severity

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

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

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

isocitrate dehydrogenase (NADP(+)) 1

onset
disease_progression

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

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

RGD:11074562 RGD:11522732

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

interleukin 16

protein:increased expression:brain

NCBI chr15:60,181,827...60,299,406
Ensembl chr15:79,122,988...79,250,861

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 2

CTD Direct Evidence: therapeutic

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878

G

potassium voltage-gated channel subfamily C member 2

mRNA:splice variant (human)

NCBI chr12:72,566,924...72,736,270

G

kinase insert domain receptor

treatment

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KRAS proto-oncogene, GTPase

treatment

mRNA:decreased expression:brain

PMID:16166301 PMID:19179066

RGD:13702861 RGD:13702872

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

L1 cell adhesion molecule

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

NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228

G

histone H3.3A

ClinVar Annotator: match by term: Glioblastoma

PMID:26619011 PMID:26822237

NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447

G

interferon alpha-2

CTD Direct Evidence: therapeutic

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

solute carrier family 22 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr11:58,573,286...58,668,946
Ensembl chr11:61,997,429...62,018,738

G

signal transducer and activator of transcription 5A

disease_progression
treatment

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

NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783

G

histone H3.1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:25,865,046...25,865,544
Ensembl chr 6:26,523,132...26,523,542

G

histone H2AX

CTD Direct Evidence: marker/mechanism

NCBI chr11:113,932,078...113,933,679

G

uncharacterized LOC100995589

ClinVar Annotator: match by term: Glioblastoma

NCBI chr2A:15,923,366...15,926,680

G

polycomb protein SUZ12

CTD Direct Evidence: marker/mechanism

NCBI chr17:24,790,921...24,853,790

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

leucine rich repeat containing 59

CTD Direct Evidence: marker/mechanism

NCBI chr17:44,475,661...44,492,021
Ensembl chr17:49,349,738...49,366,039

G

latent transforming growth factor beta binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr19:37,637,509...37,674,791
Ensembl chr19:46,144,485...46,181,636

G

leucine zipper like post translational regulator 1

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

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

macrophage immunometabolism regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 5:98,612,892...98,632,854
Ensembl chr 5:104,330,232...104,330,852

G

microtubule associated protein 1 light chain 3 alpha

treatment

NCBI chr20:30,887,345...30,888,986
Ensembl chr20:32,010,284...32,020,411

G

mitogen-activated protein kinase kinase 2

treatment

NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933

G

MDM2 proto-oncogene

DNA:amplication

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

MDM4 regulator of p53

CTD Direct Evidence: marker/mechanism

NCBI chr 1:180,117,364...180,151,144
Ensembl chr 1:184,406,124...184,439,344

G

mediator complex subunit 12

ClinVar Annotator: match by term: Glioblastoma

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

O-6-methylguanine-DNA methyltransferase

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

PMID:14669534 PMID:20131314 PMID:22162573

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

matrix metallopeptidase 2

severity

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

PMID:7616276 PMID:16598420

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 7

severity

protein:increased expression:brain (human)

NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099

G

matrix metallopeptidase 9

treatment
severity

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

PMID:7616276 PMID:12439751 PMID:16598420

RGD:7207145 RGD:8547973

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

mutS homolog 2

ClinVar Annotator: match by term: Glioblastoma

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

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 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Glioblastoma

NCBI chr2A:15,925,130...15,931,605

G

nuclear receptor corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,934,452...35,121,195

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

G

NDRG family member 4

mRNA, protein:decreased expression:brain

NCBI chr16:38,729,616...38,780,173
Ensembl chr16:57,857,414...57,907,557

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

NFKB inhibitor alpha

treatment

human cell line in a mouse model

NCBI chr14:16,155,331...16,158,588

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

platelet derived growth factor subunit B

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

platelet derived growth factor receptor beta

treatment

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

G

podoplanin

NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584

G

platelet and endothelial cell adhesion molecule 1

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

placental growth factor

disease_progression

NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964

G

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

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

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

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

disease_progression

PMID:21188471 PMID:26956052

RGD:11343921 RGD:13782050

NCBI chr 3:135,685,120...135,867,096
Ensembl chr 3:143,288,563...143,431,314

G

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

disease_progression

NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Glioblastoma

PMID:19962457 PMID:25157968 PMID:26619011

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

G

Pim-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:36,730,669...36,735,954

G

PML nuclear body scaffold

CTD Direct Evidence: marker/mechanism

NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

G

DNA polymerase kappa

CTD Direct Evidence: marker/mechanism

NCBI chr 5:39,700,659...39,788,727
Ensembl chr 5:40,311,526...40,401,003

G

protection of telomeres 1

ClinVar Annotator: match by term: Glioblastoma, somatic

NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558

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 chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

parkin RBR E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770

G

prominin 1

CTD Direct Evidence: marker/mechanism

PMID:18679414 PMID:18829568 PMID:19718438

NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin-endoperoxide synthase 1

disease_progression

protein:increased expression:microglia, macrophage,

PMID:10229132 PMID:11121536

RGD:5688245 RGD:5688250

NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:endothelial cell

PMID:10229132 PMID:11121536

RGD:5688245 RGD:5688250

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

G

pleiotrophin

protein:increased expression:brain (human)

NCBI chr 7:129,184,786...129,300,815
Ensembl chr 7:141,701,430...141,705,623

G

protein tyrosine phosphatase receptor type B

treatment

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

PMID:14692702 PMID:15831233 PMID:16489031

RGD:151660504 RGD:151660507 RGD:151664746

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

G

RB transcriptional corepressor 1

severity

DNA:hypermethylation:promoter:

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

reversion inducing cysteine rich protein with kazal motifs

CTD Direct Evidence: therapeutic

NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116

G

ribosomal protein L35a

mRNA:increased expression:brain (human)

NCBI chr 3:195,386,399...195,392,113
Ensembl chr 3:205,258,700...205,264,485

G

ribosomal protein L5

DNA:mutations:multiple (human)

NCBI chr 1:95,497,047...95,507,006
Ensembl chr 1:94,230,451...94,241,522

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

G

septin 14

CTD Direct Evidence: marker/mechanism

NCBI chr 7:56,395,962...56,467,826
Ensembl chr 7:56,830,212...56,890,798

G

serpin family G member 1

treatment

NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Glioblastoma multiforme

NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842

G

serrate, RNA effector molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 7:92,900,023...92,913,690
Ensembl chr 7:106,296,488...106,310,257

G

signal transducer and activator of transcription 3

disease_progression

mRNA, protein:increased expression:brain (human)

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

testin LIM domain protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,176,519...108,224,816
Ensembl chr 7:120,873,762...120,922,333

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16170020 PMID:17099729

NCBI chr20:34,450,845...34,488,106
Ensembl chr20:35,561,819...35,599,042

G

transmembrane protein 135

CTD Direct Evidence: marker/mechanism

NCBI chr11:82,089,010...82,360,744
Ensembl chr11:85,696,632...85,966,778

G

tenascin C

NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137

G

tumor protein p53

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

PMID:253702 PMID:960674 PMID:1349175 PMID:1467311 PMID:1565143 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tumor protein p53 binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:22,364,696...22,472,499
Ensembl chr15:40,519,012...40,626,741

G

tRNA methyltransferase 11 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 6:123,770,783...123,825,179
Ensembl chr 6:127,888,697...127,941,505

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

G

zinc finger and BTB domain containing 7A

CTD Direct Evidence: marker/mechanism

NCBI chr19:3,066,554...3,090,285

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 chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

cytochrome P450 family 2 subfamily B member 6

CTD Direct Evidence: therapeutic

PMID:9766669 PMID:11389073

NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672

G

NADPH--cytochrome P450 reductase

CTD Direct Evidence: therapeutic

NCBI chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530

G

plasminogen activator, urokinase

severity

mouse gene in rat model

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:microglia, macrophage,

NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:endothelial cell

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

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 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430

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 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430

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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

delta like canonical Notch ligand 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471

G

hes related family bHLH transcription factor with YRPW motif 1

mRNA,protein:increased expression:temporal lobe :

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

G

notch receptor 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

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 chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471

G

EPH receptor B4

mRNA,protein:decreased expression:anterior temporal lobe

NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022

G

hes family bHLH transcription factor 1

mRNA:increased expression:anterior temporal lobe

NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257

G

hes related family bHLH transcription factor with YRPW motif 1

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

hes related family bHLH transcription factor with YRPW motif 2

mRNA:increased expression:anterior temporal lobe

NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056

G

kinase insert domain receptor

mRNA:increased expression:anterior temporal lobe

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

notch receptor 1

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

notch receptor 4

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

G

phosphatase and tensin homolog

protein:decreased expression:anterior temporal lobe

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

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 | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative

PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 More...

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative

PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More...

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

Hereditary Leiomyomatosis and Renal Cell Cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CHM like Rab escort protein

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:217,191,065...217,202,578

G

cholinergic receptor muscarinic 3

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:214,931,514...215,452,739

G

exonuclease 1

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:217,410,175...217,451,982
Ensembl chr 1:222,389,684...222,431,556

G

fumarate hydratase

ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer | ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous

PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More...

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

G

formin 2

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:215,626,889...216,023,590

G

gremlin 2, DAN family BMP antagonist

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:216,037,977...216,163,020
Ensembl chr 1:221,026,605...221,027,111

G

kynurenine 3-monooxygenase

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:217,094,037...217,157,827
Ensembl chr 1:222,075,268...222,138,866

G

microtubule associated protein 1 light chain 3 gamma

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:217,558,010...217,562,485
Ensembl chr 1:222,537,401...222,541,244

G

opsin 3

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:217,155,765...217,202,577
Ensembl chr 1:222,136,422...222,184,598

G

phospholipase D family member 5

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:217,640,005...218,081,158

G

regulator of G protein signaling 7

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:216,329,373...216,919,898
Ensembl chr 1:221,313,924...221,899,627

G

ryanodine receptor 2

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

WD repeat domain 64

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:217,214,176...217,364,983
Ensembl chr 1:222,194,990...222,344,758

G

zona pellucida glycoprotein 4

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr 1:213,435,888...213,444,439
Ensembl chr 1:218,428,967...218,442,383

hereditary multiple exostoses

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanine and arginine rich domain containing protein

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 8:113,610,223...113,619,903

G

cellular communication network factor 3

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:116,105,935...116,114,241
Ensembl chr 8:118,855,445...118,865,039

G

collagen type XIV alpha 1 chain

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:116,818,467...117,065,385
Ensembl chr 8:119,610,929...119,831,880

G

collectin subfamily member 10

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:115,758,592...115,798,548
Ensembl chr 8:118,277,484...118,317,271

G

DEP domain containing MTOR interacting protein

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:116,563,935...116,743,843
Ensembl chr 8:119,311,942...119,492,127

G

DNA replication and sister chromatid cohesion 1

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:116,524,249...116,546,178
Ensembl chr 8:119,272,490...119,294,342

G

eukaryotic translation initiation factor 3 subunit H

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 8:113,320,059...113,440,769
Ensembl chr 8:115,863,490...115,973,872

G

ectonucleotide pyrophosphatase/phosphodiesterase 2

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:116,248,587...116,364,966
Ensembl chr 8:118,998,530...119,114,273

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 chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851

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 chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447

G

mal, T cell differentiation protein 2

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:115,894,617...115,935,359
Ensembl chr 8:118,413,391...118,452,972

G

mediator complex subunit 30

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 8:114,211,278...114,230,838
Ensembl chr 8:116,732,283...116,752,249

G

mitochondrial ribosomal protein L13

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:117,087,845...117,135,142
Ensembl chr 8:119,856,492...119,903,642

G

MDM2 binding protein

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:117,135,172...117,213,360
Ensembl chr 8:119,903,633...119,980,911

G

protein tyrosine phosphatase non-receptor type 11

CTD Direct Evidence: marker/mechanism

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

RAD21 cohesin complex component

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421

G

sterile alpha motif domain containing 12

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:114,823,792...115,312,738

G

solute carrier family 30 member 8

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 8:113,624,785...113,851,633
Ensembl chr 8:116,223,595...116,394,095

G

syntrophin beta 1

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:117,225,128...117,501,899
Ensembl chr 8:119,996,149...120,268,188

G

TATA-box binding protein associated factor 2

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:116,421,520...116,523,138
Ensembl chr 8:119,170,327...119,271,405

G

TNF receptor superfamily member 11b

ClinVar Annotator: match by term: Multiple congenital exostosis

PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381

NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422

G

transcriptional repressor GATA binding 1

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 8:112,079,147...112,339,567

G

UTP23 small subunit processome component

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 8:113,441,014...113,462,103
Ensembl chr 8:115,984,167...116,066,606

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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

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 chr2B:44,994,175...45,133,490
Ensembl chr2B:162,234,823...162,297,805

G

adhesion G protein-coupled receptor A2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 8:37,098,486...37,144,437
Ensembl chr 8:34,276,267...34,321,836

G

AKT serine/threonine kinase 2

protein:increased expression:cytoplasm (human)

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

G

angiomotin like 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:89,743,625...89,890,334
Ensembl chr11:93,278,464...93,413,197

G

angiopoietin 2

protein:increased expression:brain (rat)

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Malignant glioma

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

apolipoprotein D

CTD Direct Evidence: marker/mechanism

NCBI chr 3:192,852,887...192,868,233
Ensembl chr 3:203,152,476...203,168,060

G

A-Raf proto-oncogene, serine/threonine kinase

disease_progression

NCBI chr X:39,997,026...40,007,783
Ensembl chr X:47,893,153...47,904,643

G

amphiregulin

NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:123,780,028...124,096,494
Ensembl chr11:127,684,622...127,909,822

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 6:154,581,148...155,018,706

G

ARF like GTPase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,370,499...60,378,553
Ensembl chr11:63,710,622...63,719,103

G

assembly factor for spindle microtubules

disease_progression

mRNA:increased expression:brain:

NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810

G

activating transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:46,941,480...46,946,697
Ensembl chr19:55,859,476...55,861,708

G

autophagy related 2A

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,251,169...60,273,831
Ensembl chr11:63,591,896...63,614,902

G

autophagy related 7

treatment

NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Malignant glioma

PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More...

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,681,831...7,688,710
Ensembl chr17:7,669,626...7,673,834

G

ATRX chromatin remodeler

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

PMID:23104868 PMID:23583981 PMID:24705251

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

BCL2 associated agonist of cell death

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257

G

BTG3 associated nuclear protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr16:68,626,638...68,753,293

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

BarH like homeobox 1

protein:increased expression:brain:

NCBI chr 9:103,698,024...103,709,834
Ensembl chr 9:132,331,770...132,338,661

G

basic leucine zipper ATF-like transcription factor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,344,306...60,353,448
Ensembl chr11:63,685,121...63,694,280

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 1:131,985,310...132,003,068
Ensembl chr 1:135,808,783...135,826,344

G

bradykinin receptor B2

mRNA:increased expression:brain

NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253

G

baculoviral IAP repeat containing 5

protein:increased expression:brain

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9

PMID:186727 PMID:251866 PMID:278235 PMID:2200631 PMID:2661312 More...

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

bromodomain containing 7

protein:increased expression:brain:

NCBI chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386

G

complement C3

treatment

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Malignant glioma

PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More...

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

G

calcium voltage-gated channel auxiliary subunit gamma 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr22:17,475,693...17,618,299
Ensembl chr22:35,317,121...35,454,850

G

calcium/calmodulin dependent protein kinase II alpha

disease_progression

NCBI chr 5:145,644,164...145,714,143
Ensembl chr 5:151,649,062...151,719,373

G

calcium/calmodulin dependent protein kinase II beta

disease_progression

NCBI chr 7:44,930,859...45,040,078
Ensembl chr 7:45,001,267...45,110,342

G

calcium/calmodulin dependent protein kinase kinase 2

disease_progression

NCBI chr12:118,835,862...118,896,918
Ensembl chr12:122,206,552...122,267,631

G

calpain 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,545,837...60,576,631
Ensembl chr11:63,886,015...63,916,021

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

catsper channel auxiliary subunit zeta

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,657,237...59,661,838
Ensembl chr11:63,001,836...63,006,546

G

caveolin 1

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

caveolin 2

NCBI chr 7:108,254,074...108,480,716
Ensembl chr 7:121,168,579...121,177,415

G

coiled-coil domain containing 88B

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,696,276...59,714,086
Ensembl chr11:63,042,147...63,058,434

G

cellular communication network factor 1

exacerbates

human cells in mouse model

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

cyclin D1

disease_progression
susceptibility

PMID:21844184 PMID:22304571

RGD:13681930 RGD:13702091

NCBI chr11:64,737,006...64,750,353

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564

G

CD40 molecule

treatment

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD80 molecule

NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870

G

CDC42 binding protein kinase gamma

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,180,468...60,200,719
Ensembl chr11:63,521,521...63,541,784

G

CDC42 effector protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,679,582...60,686,763
Ensembl chr11:64,024,281...64,024,913

G

cyclin dependent kinase 4

disease_progression

PMID:21844184 PMID:23761023

RGD:13702090 RGD:13702091

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

cyclin dependent kinase 6

severity

DNA:amplification:

PMID:9102208 PMID:22736304

RGD:13702093 RGD:13702094

NCBI chr 7:84,603,419...84,835,082

G

cyclin dependent kinase inhibitor 1A

treatment
severity

DNA:hypermethylation:promoter:

PMID:9144534 PMID:18791688 PMID:20844987

RGD:13702125 RGD:13702128 RGD:13702129

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

cyclin dependent kinase inhibitor 2A

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:deletions

PMID:11314047 PMID:15814359 PMID:19578367

NCBI chr 9:21,803,862...21,831,322

G

cyclin dependent kinase inhibitor 2B

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

G

chromatin assembly factor 1 subunit A

susceptibility

DNA:SNP:intron:rs243356(human)

NCBI chr19:3,425,182...3,461,646
Ensembl chr19:4,375,379...4,409,339

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:brain:

NCBI chr21:22,755,721...22,786,958
Ensembl chr21:36,113,971...36,143,575

G

checkpoint kinase 2

ClinVar Annotator: match by term: Astrocytoma

PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More...

NCBI chr22:9,757,038...9,811,171

G

chitinase 3 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

chloride voltage-gated channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049

G

chloride voltage-gated channel 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:161,838,061...161,943,072
Ensembl chr 4:173,925,474...174,011,681

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,137,523...42,299,716
Ensembl chr X:49,854,165...50,006,363

G

contactin 2

severity

mRNA, protein:increased expression:brain (human)

NCBI chr 1:180,645,259...180,680,081
Ensembl chr 1:184,931,497...184,966,482

G

ciliogenesis and planar polarity effector complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

PMID:25741868 PMID:28492532

NCBI chr 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807

G

colony stimulating factor 1

NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943

G

cathepsin B

NCBI chr 8:7,333,498...7,359,264

G

C-X-C motif chemokine receptor 3

NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756

G

cytochrome P450 family 2 subfamily E member 1

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

Ensembl chr10:134,839,025...134,852,719

G

decorin

disease_progression

NCBI chr12:88,678,791...88,715,677
Ensembl chr12:91,994,129...92,031,413

G

doublecortin

treatment
disease_progression

PMID:17178868 PMID:19681167 PMID:21477071

RGD:12904748 RGD:12904754 RGD:12904761

NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582

G

discoidin domain receptor tyrosine kinase 1

severity

mRNA, protein:increased expression:brain (human)

NCBI chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455

G

DEP domain containing 5, GATOR1 subcomplex subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr22:12,774,147...12,929,261
Ensembl chr22:30,630,110...30,781,578

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Pediatric high-grade glioma

PMID:25741868 PMID:26526666 PMID:28492532 PMID:29708584

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

G

delta like non-canonical Notch ligand 1

NCBI chr14:81,348,380...81,356,607
Ensembl chr14:100,654,965...100,668,019

G

delta like canonical Notch ligand 4

ameliorates

NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471

G

Dmx like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:114,443,624...114,634,900
Ensembl chr 5:120,229,875...120,418,440

G

DnaJ heat shock protein family (Hsp40) member C4

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,587,334...59,591,443
Ensembl chr11:62,932,272...62,936,769

G

double PHD fingers 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,698,580...60,717,800
Ensembl chr11:64,037,108...64,055,727

G

E2F transcription factor 1

severity

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

G

E2F transcription factor 3

disease_progression

NCBI chr 6:20,225,471...20,317,199
Ensembl chr 6:20,574,898...20,665,785

G

EGF containing fibulin extracellular matrix protein 1

protein:increased expression:brain:

NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500

G

elongation factor like GTPase 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:61,111,244...61,243,724

G

epidermal growth factor

susceptibility

DNA:polymorphism:promoter:+61A>G(human)
DNA:polymorphism:promoter:GG genotypes were associated with increased risk.

PMID:17473192 PMID:22106858

RGD:13702473 RGD:13702474

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

G

epidermal growth factor receptor

treatment

ClinVar Annotator: match by term: Brainstem glioma

PMID:10616092 PMID:17177598 PMID:26619011

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

EH domain binding protein 1 like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,935,156...60,951,756
Ensembl chr11:64,273,027...64,285,950

G

EH domain containing 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,208,840...60,236,513
Ensembl chr11:63,547,286...63,577,252

G

ectonucleoside triphosphate diphosphohydrolase 2

NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031

G

EPH receptor A5

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 4:58,392,771...58,743,604

G

erythropoietin

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

erythropoietin receptor

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Glioma susceptibility 1

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

DNA:snp:3'utr:c.8092C>A (human) (rs3212986)

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

ERCC excision repair 5, endonuclease

susceptibility

DNA:SNP:cd: p.D1558H (rs17655) (human)

NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182

G

estrogen related receptor alpha

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,662,565...59,673,789
Ensembl chr11:63,009,295...63,018,744

G

coagulation factor II, thrombin

treatment

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

family with sequence similarity 107 member A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:58,494,342...58,557,712
Ensembl chr 3:59,903,602...59,967,013

G

family with sequence similarity 89 member B

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,931,592...60,933,317

G

FA complementation group A

ClinVar Annotator: match by term: Pediatric high-grade glioma

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

G

FA complementation group B

ClinVar Annotator: match by term: Glioma susceptibility 1

PMID:15502827 PMID:16199547 PMID:23613520 PMID:25741868 PMID:28492532

NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817

G

Fas cell surface death receptor

severity

mouse gene in a rat model

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

FAU ubiquitin like and ribosomal protein S30 fusion

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,482,981...60,484,585
Ensembl chr11:63,821,447...63,822,579

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351

G

FERM domain containing kindlin 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,562,861...59,581,054
Ensembl chr11:62,909,030...62,928,191

G

fibroblast growth factor 2

CTD Direct Evidence: therapeutic

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

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 chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

fibronectin leucine rich transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,393,536...59,477,611
Ensembl chr11:62,820,380...62,822,404

G

fms related receptor tyrosine kinase 3 ligand

treatment

NCBI chr19:46,486,169...46,499,008

G

FERM domain containing 8

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,750,470...60,777,690
Ensembl chr11:64,087,206...64,114,367

G

ferritin heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:57,329,163...57,332,248

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362

G

gap junction protein alpha 1

NCBI chr 6:119,213,513...119,227,617

G

galactosidase beta 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804

G

gon-4 like

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:131,084,009...131,193,884
Ensembl chr 1:134,917,791...135,020,042

G

glycoprotein hormone subunit alpha 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,284,963...60,294,626
Ensembl chr11:63,631,772...63,632,765

G

G protein-coupled receptor 137

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,627,488...59,646,556
Ensembl chr11:62,985,909...62,990,950

G

glutathione S-transferase mu 1

severity

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase mu 3

DNA: deletion: intron 6

NCBI chr 1:112,380,890...112,384,988
Ensembl chr 1:127,957,008...127,960,578

G

glutathione S-transferase pi 1

susceptibility

DNA:polymorphism:exon:p.I105V (rs1695) (human)
CTD Direct Evidence: marker/mechanism

PMID:15006924 PMID:16899598

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

histone deacetylase 3

disease_progression

mRNA,protein:increased expression:brain:
ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322

G

helicase, lymphoid specific

severity

NCBI chr10:91,282,330...91,344,156
Ensembl chr10:94,790,292...94,847,209

G

hepatocyte growth factor

disease_progression

protein:increased expression:brain:

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

high mobility group box 1

treatment

NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527

G

high mobility group nucleosome binding domain 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,180,585...70,268,545

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr2B:63,386,806...63,398,777

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124

G

heat shock protein family A (Hsp70) member 5

protein:increased expression

NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458

G

isocitrate dehydrogenase (NADP(+)) 1

susceptibility

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: IDH1-related condition
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 9

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

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Brainstem glioma

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

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

interferon gamma

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

insulin like growth factor 1

severity

protein:increased expression:serum:

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

DNA: SNP: : rs2272037 or rs2016347

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

insulin like growth factor binding protein 3

severity

protein:increased expression:serum:

NCBI chr 7:46,564,234...46,573,145

G

interleukin 10

susceptibility

DNA:SNP: :rs1800896 (human)

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 12A

CTD Direct Evidence: therapeutic

NCBI chr 3:157,011,675...157,019,897
Ensembl chr 3:165,061,505...165,068,666

G

interleukin 12B

CTD Direct Evidence: therapeutic

NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381

G

interleukin 18

treatment

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 2

treatment

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 4

treatment

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 7

NCBI chr 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918

G

ISG15 ubiquitin like modifier

CTD Direct Evidence: marker/mechanism

Ensembl chr 1:927,418...928,491

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Ependymoma

NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975

G

potassium two pore domain channel subfamily K member 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,648,374...59,657,083
Ensembl chr11:62,994,544...63,001,229

G

potassium two pore domain channel subfamily K member 7

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,951,961...60,955,240
Ensembl chr11:64,286,502...64,289,662

G

lysine demethylase 5B

disease_progression

NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994

G

kinase insert domain receptor

disease_progression
severity

PMID:10506722 PMID:20501615

RGD:5684393 RGD:5684425

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

kelch like family member 21

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:5,352,020...5,364,268
Ensembl chr 1:6,604,801...6,616,890

G

killin, p53 regulated DNA replication inhibitor

ClinVar Annotator: match by term: Glioma susceptibility 2

PMID:25741868 PMID:26467025 PMID:27535533

NCBI chr10:84,581,971...84,587,420

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Astrocytoma

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

KRAS proto-oncogene, GTPase

severity

PMID:19435821 PMID:22207524

RGD:13702477 RGD:13702860

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

kringle containing transmembrane protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr16:1,905,397...1,910,249
Ensembl chr16:3,078,086...3,082,325

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 4:1,953,033...1,994,958
Ensembl chr 4:1,862,788...1,900,901

G

galectin 3

disease_progression

NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412

G

DNA ligase 4

DNA:SNP: :rs1805388 (human)

NCBI chr13:89,336,434...89,347,418
Ensembl chr13:108,475,820...108,478,555

G

histone H3.3A

ClinVar Annotator: match by term: Brainstem glioma

NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447

G

class I histocompatibility antigen, Gogo-C*0202 alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,020,373...31,024,959
Ensembl chr 6:31,910,788...31,914,286

G

class I histocompatibility antigen, Gogo-B*0101 alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067

G

histone H3.1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:25,865,046...25,865,544
Ensembl chr 6:26,523,132...26,523,542

G

XIAP-associated factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:6,785,040...6,806,177
Ensembl chr17:6,774,951...6,794,947

G

cytochrome c oxidase subunit 8A, mitochondrial

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,331,536...59,333,496
Ensembl chr11:62,679,993...62,681,978

G

polycomb protein SUZ12

CTD Direct Evidence: marker/mechanism

NCBI chr17:24,790,921...24,853,790

G

lymphotoxin alpha

treatment

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Pediatric high-grade glioma

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

mono-ADP ribosylhydrolase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,355,525...59,525,620

G

membrane anchored junction protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,294,618...60,328,902
Ensembl chr11:63,635,508...63,669,168

G

mitogen-activated protein kinase kinase 1

NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161

G

mitogen-activated protein kinase kinase kinase 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,956,880...60,973,972
Ensembl chr11:64,291,635...64,307,737

G

mitogen-activated protein kinase kinase kinase kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,142,445...60,158,728
Ensembl chr11:63,486,827...63,499,746

G

mitogen-activated protein kinase kinase kinase kinase 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr2A:39,286,787...39,474,780
Ensembl chr2A:40,040,497...40,228,109

G

mitogen-activated protein kinase 3

Ensembl chr16:30,489,362...30,498,017

G

microtubule affinity regulating kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,195,852...59,268,391
Ensembl chr11:62,546,455...62,618,772

G

midkine

CTD Direct Evidence: marker/mechanism

NCBI chr11:46,339,365...46,342,388
Ensembl chr11:46,891,540...46,893,254

G

menin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:brain, glioma (rat)

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

PMID:16033832 PMID:16899598 PMID:19901110

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

marker of proliferation Ki-67

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

matrix metallopeptidase 2

treatment

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

mitochondrial ribosomal protein L49

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,484,645...60,489,718
Ensembl chr11:63,823,018...63,828,127

G

mutS homolog 2

ClinVar Annotator: match by term: Ependymoma
ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Malignant glioma

PMID:11726306 PMID:15849733 PMID:16395668 PMID:17101317 PMID:25741868 More...

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

mechanistic target of rapamycin kinase

severity

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23583981 PMID:26829751

NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:63,105,379...63,156,421
Ensembl chr 8:64,771,278...64,811,960

G

myosin light chain kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:120,711,705...120,983,432
Ensembl chr 3:127,614,173...127,793,261

G

N-alpha-acetyltransferase 40, NatD catalytic subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,296,331...59,312,317
Ensembl chr11:62,646,077...62,661,589

G

N-acetylated alpha-linked acidic dipeptidase like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,401,140...60,415,438
Ensembl chr11:63,740,451...63,753,702

G

NAD synthetase 1

susceptibility

NCBI chr11:66,464,320...66,537,649
Ensembl chr11:69,735,871...69,788,953

G

nibrin

ClinVar Annotator: match by term: Pediatric high-grade glioma

PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 More...

NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307

G

NDRG family member 4

disease_progression

protein:decreased expression:brain

NCBI chr16:38,729,616...38,780,173
Ensembl chr16:57,857,414...57,907,557

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr10:5,457,920...5,503,223
Ensembl chr10:5,444,127...5,489,509

G

neurofibromin 1

disease_progression

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

PMID:25119042 PMID:26190195

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

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

ClinVar Annotator: match by term: Ependymoma

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

G

nitric oxide synthase 3

protein:increased expression:blood vessel endothelial cell

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

neurexin 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,959,917...60,078,093
Ensembl chr11:63,303,659...63,409,687

G

neurotrophic receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism

Ensembl chr 1:136,007,476...136,047,355

G

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678

G

neurotrophic receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204

G

nudix hydrolase 22

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,583,351...59,587,187
Ensembl chr11:62,924,690...62,932,105

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,342,820...59,355,386
Ensembl chr11:62,690,542...62,706,542

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:41,219,536...41,256,219

G

POZ/BTB and AT hook containing zinc finger 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr22:12,349,691...12,370,273
Ensembl chr22:30,211,812...30,232,106

G

protein-L-isoaspartate (D-aspartate) O-methyltransferase

mRNA:decreased expression:brain:

NCBI chr 6:147,564,783...147,623,402

G

pecanex 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,974,933...60,996,632
Ensembl chr11:64,310,292...64,330,943

G

PDGFA associated protein 1

severity

NCBI chr 7:91,369,488...91,382,161
Ensembl chr 7:104,871,576...104,884,276

G

platelet derived growth factor subunit A

in a mouse model

NCBI chr 7:648,722...672,023

G

platelet derived growth factor subunit B

severity

PMID:21677873 PMID:26945107 PMID:27448842

RGD:13702895 RGD:13702896 RGD:13702897

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

pleckstrin homology like domain family B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391

G

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

ClinVar Annotator: match by term: Brainstem glioma
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 9

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

phosphoinositide-3-kinase regulatory subunit 3

treatment

NCBI chr 1:45,345,946...45,481,031
Ensembl chr 1:46,700,153...46,792,920

G

plasminogen activator, urokinase

severity

protein:increased expression:brain (human)

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

phospholipase C beta 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,608,651...59,626,289
Ensembl chr11:62,953,587...62,971,393

G

polo like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:14,420,972...14,432,821
Ensembl chr16:23,928,773...23,940,779

G

DNA polymerase alpha 2, accessory subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,626,555...60,670,716
Ensembl chr11:63,966,531...64,001,335

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Pediatric high-grade glioma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:30093976 PMID:31265121 More...

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

G

protection of telomeres 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: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9
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 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Pediatric high-grade glioma
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More...

NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558

G

POU class 3 homeobox 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:72,563,887...72,568,233
Ensembl chr X:82,666,757...82,667,842

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426

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 chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

protein phosphatase, Mg2+/Mn2+ dependent 1D

CTD Direct Evidence: marker/mechanism

NCBI chr17:54,698,338...54,761,889
Ensembl chr17:59,824,566...59,887,015

G

protein phosphatase 1 regulatory inhibitor subunit 14B

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,601,594...59,604,050

G

protein phosphatase 2 regulatory subunit B'beta

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,280,890...60,290,883
Ensembl chr11:63,621,745...63,631,779

G

peroxiredoxin 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,675,138...59,678,804
Ensembl chr11:63,020,097...63,023,624

G

protein kinase C alpha

DNA:gene fusion: :

NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903

G

pleckstrin and Sec7 domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:17,758,287...18,308,876
Ensembl chr 8:14,714,575...15,258,823

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2
ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9

PMID:792966 PMID:1336932 PMID:7728760 PMID:8980400 PMID:9140396 More...

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Astrocytoma
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 9

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

glycogen phosphorylase, muscle associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,101,810...60,115,813
Ensembl chr11:63,443,609...63,457,430

G

QKI, KH domain containing RNA binding

CTD Direct Evidence: marker/mechanism

NCBI chr 6:161,361,413...161,523,414

G

Raf-1 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Glioma

NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871

G

RAS guanyl releasing protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,081,781...60,101,400
Ensembl chr11:63,423,112...63,440,917

G

REST corepressor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,268,592...59,274,534
Ensembl chr11:62,618,975...62,624,732

G

RELA proto-oncogene, NF-kB subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

ret proto-oncogene

ClinVar Annotator: match by term: Ependymoma

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

ring finger protein 43

exacerbates

protein:decreased expression:brain, brainstem (human)

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

G

ROS proto-oncogene 1, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053

G

ribosomal protein S6 kinase A4

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,715,699...59,728,782
Ensembl chr11:63,060,071...63,073,159

G

regulator of telomere elongation helicase 1

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

Ensembl chr20:61,581,331...61,618,718

G

SAC3 domain containing 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,397,122...60,401,157

G

SCY1 like pseudokinase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413

G

serpin family E member 1

protein:increased expression:plasma

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

SET domain containing 9

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:57,093,340...57,103,500
Ensembl chr 5:58,724,521...58,732,478

G

SET domain bifurcated histone lysine methyltransferase 1

severity

protein:increased expression:brain, cell nucleus (human)

NCBI chr 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442

G

splicing factor 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,120,126...60,134,279
Ensembl chr11:63,461,318...63,473,355

G

SH3 domain containing GRB2 like 1, endophilin A2

disease_progression
severity

protein:increased expression:cytoplasm,white matter:

NCBI chr19:3,383,267...3,423,165
Ensembl chr19:4,329,750...4,340,121

G

SH3 domain and tetratricopeptide repeats 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354

G

signal-induced proliferation-associated 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,997,292...61,010,155
Ensembl chr11:64,335,136...64,344,955

G

sirtuin 2

treatment

NCBI chr19:35,984,453...36,005,582
Ensembl chr19:44,533,965...44,554,799

G

solute carrier family 22 member 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,909,374...59,925,512
Ensembl chr11:63,254,038...63,271,283

G

solute carrier family 22 member 12

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,944,311...59,956,102
Ensembl chr11:63,290,329...63,299,047

G

solute carrier family 25 member 45

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,736,975...60,747,380
Ensembl chr11:64,075,675...64,082,750

G

solute carrier family 39 member 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr17:66,554,202...67,019,899
Ensembl chr17:72,014,122...72,472,918

G

solute carrier family 44 member 1

DNA:gene fusion: :

NCBI chr 9:76,417,869...76,612,233
Ensembl chr 9:104,597,755...104,737,620

G

solute carrier family 5 member 5

CTD Direct Evidence: therapeutic

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

G

solute carrier family 6 member 3

protein:decreased expression

Ensembl chr 5:1,437,567...1,488,829

G

solute carrier family 7 member 5

ameliorates

NCBI chr16:68,512,407...68,552,763

G

sorting nexin 15

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,383,745...60,396,897
Ensembl chr11:63,724,206...63,736,443

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr21:18,029,831...18,037,526

G

SRY-box transcription factor 6

NCBI chr11:16,053,730...16,488,566
Ensembl chr11:15,747,495...16,175,246

G

speedy/RINGO cell cycle regulator family member C

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,496,949...60,537,886
Ensembl chr11:63,872,729...63,880,963

G

sphingosine kinase 1

protein:increased expression:endothelial cell (rat)

NCBI chr17:70,331,370...70,336,043
Ensembl chr17:75,883,329...75,886,481

G

spindlin interactor and repressor of chromatin binding

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,171,031...59,185,006
Ensembl chr11:62,521,573...62,535,275

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

sprouty RTK signaling antagonist 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:145,080,299...145,239,922
Ensembl chr X:155,131,596...155,132,462

G

ST6 beta-galactoside alpha-2,6-sialyltransferase 1

treatment

NCBI chr 3:183,955,462...184,104,537
Ensembl chr 3:192,488,087...192,569,970

G

stress induced phosphoprotein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,542,760...59,560,758
Ensembl chr11:62,889,052...62,906,902

G

stathmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,159,241...25,165,535
Ensembl chr 1:26,208,731...26,230,925

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:40,993,911...41,007,362
Ensembl chr X:48,855,494...48,868,131

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076

G

synoviolin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,489,626...60,496,945
Ensembl chr11:63,829,138...63,834,364

G

transcription activation suppressor

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:56,555,945...56,619,151
Ensembl chr 3:57,771,656...57,834,077

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:18021753 PMID:19578367

Ensembl chr 5:1,300,960...1,338,872

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998

G

tigger transposable element derived 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,718,678...60,722,729
Ensembl chr11:64,058,807...64,060,222

G

transmembrane 7 superfamily member 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,473,934...60,478,579
Ensembl chr11:63,812,769...63,816,812

G

tenascin C

protein:increased expression:brain

NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299

G

tumor necrosis factor

treatment

CTD Direct Evidence: marker/mechanism

PMID:11810046 PMID:22199285

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

PMID:16820965 PMID:19229339

NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207

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: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma
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: Malignant glioma

PMID:124622 PMID:1200021 PMID:1359493 PMID:1467311 PMID:1565143 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

TNF receptor associated factor 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:83,392,689...83,530,974
Ensembl chr14:103,263,440...103,340,670

G

tripartite motif containing 29

CTD Direct Evidence: marker/mechanism

NCBI chr11:114,946,176...114,973,186
Ensembl chr11:118,872,831...118,899,708

G

tRNA methyltransferase activator subunit 11-2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,673,737...59,675,005
Ensembl chr11:63,018,695...63,020,086

G

transient receptor potential cation channel subfamily M member 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr15:9,492,500...9,653,644
Ensembl chr15:28,530,878...28,690,947

G

tRNA phosphotransferase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,580,960...59,583,431
Ensembl chr11:62,928,097...62,930,568

G

transient receptor potential cation channel subfamily V member 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182

G

TSC complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497

G

VHL binding protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:144,685,548...144,709,136
Ensembl chr X:154,504,795...154,547,773

G

vascular endothelial growth factor B

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,591,750...59,595,926

G

VPS51 subunit of GARP complex

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,452,483...60,474,049
Ensembl chr11:63,791,519...63,812,340

G

X-box binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943

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 chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

G

X-ray repair cross complementing 3

susceptibility

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

NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037

G

YEATS domain containing 4

NCBI chr12:66,881,733...66,912,966
Ensembl chr12:69,658,150...69,688,824

G

zinc finger protein like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,440,566...60,444,734
Ensembl chr11:63,779,161...63,783,404

G

zinc finger translocation associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:59,117,406...59,126,493

G

zinc finger HIT-type containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,478,747...60,480,627
Ensembl chr11:63,817,201...63,818,412

G

zinc ribbon domain containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:60,928,869...60,930,875
Ensembl chr11:64,264,234...64,266,970

high-grade astrocytoma with piloid features

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: High-grade astrocytoma with piloid features

PMID:25741868 PMID:28492532

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

G

protection of telomeres 1

ClinVar Annotator: match by term: High-grade astrocytoma with piloid features

PMID:25741868 PMID:28492532 PMID:32155570

NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558

Hirschsprung Disease Ganglioneuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeobox 2B

ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma

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

NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449

Hydatidiform Mole

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein hormones, alpha polypeptide

protein:increased expression:serum

NCBI chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147

G

KH domain containing 3 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole

NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826

G

mutL homolog 1

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

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

mutS homolog 2

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

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Hydatidiform mole

PMID:19246479 PMID:24033266 PMID:25741868

NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

Hydatidiform Mole, Invasive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 2

protein:decreased expression:mononuclear cytotrophoblast cell

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

Hydatidiform Mole, Recurrent, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 | ClinVar Annotator: match by term: NLRP7-related condition

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

NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 | ClinVar Annotator: match by term: NLRP7-related condition

PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 More...

NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844

Hydatidiform Mole, Recurrent, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KH domain containing 3 like, subcortical maternal complex member

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

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

NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826

Hydatidiform Mole, Recurrent, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

meiotic double-stranded break formation protein 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 | ClinVar Annotator: match by term: MEI1-related condition

PMID:25741868 PMID:28492532 PMID:30388401

NCBI chr22:22,592,508...22,692,370
Ensembl chr22:40,678,001...40,777,076

Hydatidiform Mole, Recurrent, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TOP6B like initiator of meiotic double strand breaks

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 | ClinVar Annotator: match by term: TOP6BL-related condition

PMID:25741868 PMID:28492532 PMID:30388401

Ensembl chr11:65,427,937...65,522,087

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 chr 1:168,638,291...168,645,893
Ensembl chr 1:172,928,889...172,934,683

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 chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

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:19404735 PMID:19781682 PMID:20305132 PMID:23555315 PMID:25085752 More...

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

PMID:19404735 PMID:19781682 PMID:20305132 PMID:23555315 PMID:25085752 More...

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

G

epithelial cell adhesion molecule

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr2A:47,490,748...47,508,418
Ensembl chr2A:48,413,520...48,432,038

G

mutL homolog 3

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749

G

neurofibromin 1

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

PMID:25741868 PMID:28492532

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

RAD54 like

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr 1:45,549,586...45,581,711
Ensembl chr 1:46,905,598...46,936,259

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 chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

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

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:18931684 PMID:25741868 PMID:28492532

NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454

G

cyclin H

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY

PMID:25741868 PMID:28492532

NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407

G

fms related receptor tyrosine kinase 4

ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY

PMID:11807987 PMID:25741868 PMID:28492532

NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006

G

kinase insert domain receptor

ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition

PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More...

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

myosin heavy chain 9

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

G

solute carrier family 2 member 1

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

G

vascular endothelial growth factor A

disease_progression

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

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 chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

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 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

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 chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

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 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

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:10227618 PMID:10371548 More...

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

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 chr20:47,734,054...47,910,435
Ensembl chr20:48,858,238...49,034,007

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

susceptibility

ClinVar Annotator: match by term: Kaposi sarcoma, susceptibility to

PMID:28492532 PMID:38380509

NCBI chr17:61,759,241...61,917,343
Ensembl chr17:66,956,594...67,109,428

G

fibroblast growth factor receptor 2

mRNA:increased expression:zone of skin (human)

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

G

interleukin 6

ClinVar Annotator: match by term: Kaposi's sarcoma

PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More...

NCBI chr 7:23,415,922...23,420,767

G

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

treatment

NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614

Kaposiform Hemangioendothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 2

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Kaposiform hemangioendothelioma

PMID:25741868 PMID:27476652

NCBI chr 9:47,196,338...47,423,388

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 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

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 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400

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 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470

leiomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

androgen receptor

NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357

G

BCL2 antagonist/killer 1

associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium

NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

BCL2 apoptosis regulator

treatment

protein:increased expression:myometrium

PMID:16962107 PMID:23789224

RGD:10054112 RGD:1643479

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

BCL2 like 1

associated with Carcinoma, Renal Cell;protein:increased expression:myometrium

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

caveolin 1

protein:increased expression:uterus

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

cyclin G1

mRNA, protein:increased expression:uterus, myometrium

NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728

G

catechol-O-methyltransferase

susceptibility

associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M
protein:increased expression:myometrium

PMID:16443508 PMID:16730007

RGD:2289717 RGD:2289780

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

G

casein kinase 2 beta

NCBI chr 6:31,327,250...31,331,250

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

PMID:18701604 PMID:31468104

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

Fas ligand

protein:increased expression:myometrium

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

fibroblast growth factor 1

disease_progression

protein:increased expression:uterus

NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001

G

fibroblast growth factor 2

disease_progression

protein:increased expression:uterus

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

fibroblast growth factor 7

NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163

G

frizzled class receptor 2

mRNA, protein:increased expression:myometrium

NCBI chr17:12,839,362...12,843,803

G

G protein-coupled estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:1,331,586...1,338,194

G

high mobility group AT-hook 2

uterine leiomyoma, OMIM:150699; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3

NCBI chr12:22,954,946...23,096,623

G

heterogeneous nuclear ribonucleoprotein M

mRNA:increased expression:uterine myometrium (human)

NCBI chr19:7,731,828...7,776,101
Ensembl chr19:8,579,211...8,624,029

G

insulin like growth factor binding protein 6

uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray

NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132

G

inhibin subunit beta A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097

G

lysine acetyltransferase 6B

DNA:translocation:intron:IVS3 (human)

NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975

G

kinesin family member 5C

mRNA:increased expression:myometrium (human)

NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221

G

leucyl and cystinyl aminopeptidase

disease_progression

associated with Uterine Neoplasms;protein:increased expression:serum

NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876

G

marker of proliferation Ki-67

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

matrix metallopeptidase 2

protein:increased expression:myometrium

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

MYC proto-oncogene, bHLH transcription factor

treatment

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

nitric oxide synthase 3

protein:increased expression:smooth muscle cell

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

poly(ADP-ribose) polymerase 1

treatment

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

proliferating cell nuclear antigen

treatment

protein:increased expression:myometrium

PMID:18000229 PMID:21896544

RGD:10413890 RGD:2292498

NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440

G

Purkinje cell protein 4

mRNA,protein:increased expression:uterine myometrium:

NCBI chr21:26,069,039...26,284,247
Ensembl chr21:39,587,400...39,618,734

G

platelet derived growth factor subunit A

protein:increased expression:myometrium

NCBI chr 7:648,722...672,023

G

platelet derived growth factor subunit B

protein:increased expression:myometrium

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

progesterone receptor

no_association

NCBI chr11:95,997,677...96,098,866

G

phosphatase and tensin homolog

protein:decreased expression:myometrium
protein:increased phosphorylation:myometrium

PMID:17097286 PMID:18000229

RGD:2292498 RGD:2292508

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin E receptor 3

mRNA:increased expression:uterine myometrium (human)

NCBI chr 1:70,076,610...70,271,475
Ensembl chr 1:72,059,441...72,254,063

G

protein tyrosine kinase 2

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

G

secreted frizzled related protein 1

Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs
CTD Direct Evidence: marker/mechanism

NCBI chr 8:40,507,027...40,555,053

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185

G

transforming growth factor beta receptor 1

NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

PMID:15937110 PMID:21145542

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

Wnt family member 5B

Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs
CTD Direct Evidence: marker/mechanism

NCBI chr12:1,633,987...1,757,431
Ensembl chr12:1,691,097...1,708,351

G

Wnt family member 7A

Uterine Leiomyoma; mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria

NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386

G

X-ray repair cross complementing 1

susceptibility

DNA:polymorphism: :p.R399Q

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

leiomyoma cutis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fumarate hydratase

ClinVar Annotator: match by term: Multiple cutaneous leiomyomas

PMID:2314594 PMID:9300800 PMID:9635293 PMID:11865300 PMID:12761039 More...

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

leiomyomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD44 molecule (IN blood group)

NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009

leiomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-Mullerian hormone receptor type 2

protein:increased expression:myometrium

NCBI chr12:35,323,133...35,331,092
Ensembl chr12:36,107,501...36,115,175

G

cyclin dependent kinase inhibitor 2A

associated with Myometrial Neoplasms;protein:increased expression:myometrium

NCBI chr 9:21,803,862...21,831,322

G

checkpoint kinase 2

ClinVar Annotator: match by term: Leiomyosarcoma

PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More...

NCBI chr22:9,757,038...9,811,171

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

fms related receptor tyrosine kinase 1

severity

Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008)

NCBI chr13:9,584,850...9,779,542

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:33,807,171...33,816,603

G

KIT proto-oncogene, receptor tyrosine kinase

Uterine; protein:increased expression:tumor:10/14 tumors (71%)

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

mediator complex subunit 12

DNA:missense mutations:cds:

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

telomerase reverse transcriptase

mRNA:increased expression:myometrium

Ensembl chr 5:1,300,960...1,338,872

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

G

5'-3' exoribonuclease 2

mRNA:increased expression:uterus (human)

NCBI chr20:21,260,871...21,347,430
Ensembl chr20:21,222,138...21,308,561

Lipoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PLAG1 zinc finger

CTD Direct Evidence: marker/mechanism

NCBI chr 8:52,607,398...52,657,808
Ensembl chr 8:49,983,627...50,028,591

lipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

high mobility group AT-hook 2

DNA:multiple chromosomal rearrangements

NCBI chr12:22,954,946...23,096,623

G

menin 1

ClinVar Annotator: match by term: Lipoma, somatic

PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 More...

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

fatty acid synthase

CTD Direct Evidence: therapeutic

NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647

G

FUS RNA binding protein

NCBI chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

YEATS domain containing 4

CTD Direct Evidence: therapeutic

NCBI chr12:66,881,733...66,912,966
Ensembl chr12:69,658,150...69,688,824

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 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728

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 chr20:31,205,104...31,256,263
Ensembl chr20:32,329,721...32,380,526

G

carnitine palmitoyltransferase 1A

protein:increased expression:lung (human)

NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481

G

estrogen receptor 1

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

glyceraldehyde-3-phosphate dehydrogenase

protein:increased expression:lung (human)

NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729

G

glutaminase

protein:increased expression:lung (human)

NCBI chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878

G

matrix metallopeptidase 3

treatment

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 9

protein:increased expression:serum, plasma

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

nitric oxide synthase 3

protein:increased expression:lung

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

nth like DNA glycosylase 1

ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic

PMID:25741868 PMID:28492532

NCBI chr16:655,433...663,521
Ensembl chr16:2,127,858...2,135,656

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Lymphangiomyomatosis

NCBI chr16:604,366...605,560

G

pyruvate kinase M1/2

CTD Direct Evidence: marker/mechanism

NCBI chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832

G

RPTOR independent companion of MTOR complex 2

protein:increased expression:lung (human)

NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830

G

solute carrier family 16 member 1

protein:increased expression:lung (human)

NCBI chr 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032

G

serum response factor

NCBI chr 6:42,763,099...42,773,332
Ensembl chr 6:44,057,192...44,066,768

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:lung

NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:lung

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

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 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

vascular endothelial growth factor D

CTD Direct Evidence: marker/mechanism

NCBI chr X:7,972,227...8,011,263
Ensembl chr X:15,254,945...15,293,704

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 chr2B:44,994,175...45,133,490
Ensembl chr2B:162,234,823...162,297,805

G

adhesion G protein-coupled receptor B1

severity

NCBI chr 8:139,154,065...139,251,115
Ensembl chr 8:142,220,827...142,301,070

G

AKT serine/threonine kinase 1

disease_progression

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

AKT serine/threonine kinase 2

severity

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

G

AKT serine/threonine kinase 3

severity

NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838

G

annexin A1

associated with Tuberous Sclerosis;mRNA:increased expression:brain

NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357

G

ATRX chromatin remodeler

severity
disease_progression

ClinVar Annotator: match by term: Malignant astrocytoma

PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:23765250 More...

RGD:11040585 RGD:9586026

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

bromodomain containing 7

severity

protein:increased expression:brain:

NCBI chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386

G

bone marrow stromal cell antigen 2

severity

NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728

G

cell adhesion molecule 2

severity

protein:decreased expression:brain

NCBI chr 3:85,076,738...86,200,515
Ensembl chr 3:87,200,482...88,310,438

G

calcium/calmodulin dependent protein kinase II gamma

disease_progression

NCBI chr10:70,335,474...70,397,617
Ensembl chr10:73,008,103...73,068,737

G

cyclin D1

severity

NCBI chr11:64,737,006...64,750,353

G

delta like canonical Notch ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:36,597,420...36,607,021

G

docking protein 2

disease_progression

mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human)

NCBI chr 8:21,153,653...21,159,863
Ensembl chr 8:18,094,383...18,099,225

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

far upstream element binding protein 1

mRNA:increased expression:brain (human)

NCBI chr 1:77,162,675...77,198,486

G

G3BP stress granule assembly factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:147,195,100...147,234,576
Ensembl chr 5:153,197,813...153,230,414

G

glutathione S-transferase mu 1

severity

DNA:deletion: :

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase pi 1

susceptibility

DNA:polymorphism:exon:p.A114V (human)

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

hes related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

HRas proto-oncogene, GTPase

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

interleukin 16

protein:increased expression:brain

NCBI chr15:60,181,827...60,299,406
Ensembl chr15:79,122,988...79,250,861

G

KIAA1549 ortholog

CTD Direct Evidence: marker/mechanism

NCBI chr 7:130,790,115...130,940,250
Ensembl chr 7:143,283,947...143,427,404

G

KRAS proto-oncogene, GTPase

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G12D(mouse)
sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R

PMID:16247081 PMID:23817572 PMID:24038521

RGD:13702858 RGD:1600476

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

large tumor suppressor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:2,300,625...2,389,027
Ensembl chr13:20,611,861...20,683,083

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

matrix metallopeptidase 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

MRE11 homolog, double strand break repair nuclease

severity

mRNA:decreased expression:brain tumor (human)

NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:43,838,227...43,992,407
Ensembl chr20:45,000,422...45,073,549

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

G

NEDD8 ubiquitin like modifier

NCBI chr14:4,993,011...5,008,620
Ensembl chr14:23,117,271...23,132,249

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 chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678

G

protein-L-isoaspartate (D-aspartate) O-methyltransferase

protein:decreased expression,decreased activity:brain:

NCBI chr 6:147,564,783...147,623,402

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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

G

TIA1 cytotoxic granule associated RNA binding protein like 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:116,142,127...116,165,631
Ensembl chr10:119,561,786...119,585,157

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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

malignant 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

ClinVar Annotator: match by term: MFHAS1-related condition

PMID:25741868 PMID:28492532

NCBI chr 8:10,318,455...10,428,469

G

PPARG coactivator 1 alpha

treatment

human cell line in mouse model

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

RecQ like helicase 4

ClinVar Annotator: match by term: Malignant fibrous histiocytoma

PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778

Ensembl chr 8:144,267,101...144,276,985

Malignant Granular Cell Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain containing 7

ClinVar Annotator: match by term: malignant granular cell tumor

NCBI chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386

malignant pleural mesothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

disease_progression

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:pleura, lung (human)

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

baculoviral IAP repeat containing 7

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932

G

colony stimulating factor 1 receptor

mRNA:increased expression:peritoneum�� (human)

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

G

empty spiracles homeobox 2

exacerbates

mRNA:decreased expression:mesothelium of pleural cavity (human)

NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

mRNA, protein:increased expression:pleura

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

interleukin 7 receptor

disease_progression

NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612

G

lysine demethylase 6A

mRNA:increased expression:mesothelium of pleural cavity (human)

NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029

G

neuronal acetylcholine receptor subunit alpha-7

ameliorates

NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194

G

mutL homolog 1

disease_progression

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

nuclear receptor coactivator 2

ameliorates

protein:increased expression:mesothelium of pleural cavity (human)

NCBI chr 8:66,632,139...66,929,526
Ensembl chr 8:68,293,018...68,400,479

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 chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

G

RAD21 cohesin complex component

NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421

G

SET domain containing 2, histone lysine methyltransferase

disease_progression

DNA:mutations:CDS:multiple (human)

PMID:26928227 PMID:33691361

RGD:150429647 RGD:150520202

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:pleura

PMID:22199264 PMID:24912849

RGD:151361201 RGD:151660330

NCBI chr16:68,512,407...68,552,763

G

smoothened, frizzled class receptor

disease_progression

DNA:missense mutations

PMID:23379358 PMID:33209614

RGD:150521620 RGD:150521621

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606

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 chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

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 chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949

G

interleukin 13

DNA:SNP:promoter:-1112C>T (rs1800925) (human)

NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548

G

interleukin 2 receptor subunit beta

NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038

G

interleukin 4 receptor

Ensembl chr16:27,642,702...27,737,445

G

interleukin 5 receptor subunit alpha

NCBI chr 3:3,009,780...3,051,604
Ensembl chr 3:3,112,355...3,156,282

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 chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

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 chr10:56,560,589...57,269,952
Ensembl chr10:58,790,696...59,602,954

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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

NCBI chr 6:154,581,148...155,018,706

G

atonal bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:86,188,534...86,191,301
Ensembl chr 4:96,863,762...96,864,832

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

BRCA2 DNA repair associated

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

PMID:186727 PMID:251866 PMID:278235 PMID:2661312 PMID:8524414 More...

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031

G

bromodomain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:24231268 PMID:31594641

NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600

G

cyclin D1

NCBI chr11:64,737,006...64,750,353

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295

G

cyclin dependent kinase 6

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:16314645 PMID:19270706 PMID:23138228

NCBI chr 7:84,603,419...84,835,082

G

cyclin dependent kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,905,468...98,909,923
Ensembl chr 9:127,580,862...127,584,935

G

CREB binding protein

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

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:9500465 PMID:9927029 More...

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

DEAD-box helicase 3 X-linked

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr X:33,780,381...33,796,829
Ensembl chr X:41,475,116...41,505,837

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564

G

elongator acetyltransferase complex subunit 1

ClinVar Annotator: match by term: ELP1-related condition | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500

G

E1A binding protein p300

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

estrogen receptor 2

CTD Direct Evidence: therapeutic

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312

G

forkhead box O3

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272

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 1:143,566,775...143,625,357
Ensembl chr 1:147,299,350...147,350,451

G

glutathione S-transferase mu 1

DNA:deletion: :

Ensembl chr 1:127,979,238...128,010,411

G

HIC ZBTB transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:2,045,960...2,051,483

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 chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

interferon gamma

OMIM:155255

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

insulin receptor substrate 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:90,886,095...90,917,724

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538

G

lysine demethylase 4B

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

NCBI chr19:3,986,296...4,172,359
Ensembl chr19:4,977,413...5,116,113

G

lysine demethylase 4C

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

NCBI chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298

G

L3MBTL histone methyl-lysine binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:22,102,348...22,128,351
Ensembl chr22:40,193,492...40,218,925

G

L3MBTL histone methyl-lysine binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:127,814,847...127,938,220
Ensembl chr 6:131,922,967...132,045,708

G

uncharacterized LOC100995589

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr2A:15,923,366...15,926,680

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:31694585

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:39,184,883...39,191,413
Ensembl chr 1:40,510,820...40,517,821

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr2A:15,925,130...15,931,605

G

non-POU domain containing octamer binding

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

NCBI chr X:60,547,277...60,564,845
Ensembl chr X:70,602,456...70,619,956

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

orthodenticle homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:37,370,926...37,381,610
Ensembl chr14:55,641,349...55,651,012

G

platelet derived growth factor receptor alpha

severity

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:25576913

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

G

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

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

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Medulloblastoma

PMID:26822237 PMID:28492532

NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

G

protein arginine methyltransferase 5

CTD Direct Evidence: therapeutic

NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018

G

patched 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:16301862 PMID:16419085 PMID:25741868 PMID:28492532

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

patched 2

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

PMID:25741868 PMID:28492532 PMID:31945512

NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055

G

Ras association domain family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:28492532

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

ret proto-oncogene

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

S100 calcium binding protein A10

CTD Direct Evidence: marker/mechanism

NCBI chr 1:127,341,974...127,353,054
Ensembl chr 1:130,985,312...130,995,130

G

S100 calcium binding protein A4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:128,898,765...128,901,042
Ensembl chr 1:132,527,846...132,530,122

G

S100 calcium binding protein A6

CTD Direct Evidence: marker/mechanism

NCBI chr 1:128,889,749...128,891,425
Ensembl chr 1:132,518,834...132,520,499

G

secretogranin V

CTD Direct Evidence: marker/mechanism

NCBI chr15:11,136,920...11,192,606
Ensembl chr15:29,974,633...30,030,291

G

Scm polycomb group protein like 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:10,862,608...10,977,851
Ensembl chr X:18,226,256...18,344,155

G

splicing factor 3b subunit 2

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772

G

S-phase kinase associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952

G

smoothened, frizzled class receptor

treatment

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

G

SET and MYND domain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,764,307...1,813,532
Ensembl chr17:1,657,413...1,705,277

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

STE20 related adaptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:57,783,114...57,822,056
Ensembl chr17:62,929,065...62,967,021

G

SUFU negative regulator of hedgehog signaling

susceptibility

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 chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472

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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

TSC complex subunit 2

DNA:polymorphism:intron

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

tubulin beta 4A class IVa

ClinVar Annotator: match by term: Classic medulloblastoma

NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112

G

WRN RecQ like helicase

ClinVar Annotator: match by term: Medulloblastoma

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

NCBI chr 8:30,353,643...30,492,978
Ensembl chr 8:27,541,145...27,679,855

Megalencephaly-Polydactyly Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

uncharacterized LOC100995589

ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome

PMID:25741868 PMID:30573562 PMID:37710961

NCBI chr2A:15,923,366...15,926,680

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome

PMID:25741868 PMID:30573562 PMID:37710961

NCBI chr2A:15,925,130...15,931,605

melanoma and neural system tumor syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome

PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 More...

NCBI chr 9:21,803,862...21,831,322

meninges sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

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 chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

CD99 molecule (Xg blood group)

CTD Direct Evidence: marker/mechanism

G

marker of proliferation Ki-67

CTD Direct Evidence: marker/mechanism

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

ribosomal protein L6

ClinVar Annotator: match by term: Metachondromatosis

NCBI chr12:110,002,667...110,008,899
Ensembl chr12:113,398,795...113,403,186

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)

Ensembl chr20:61,581,331...61,618,718

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 chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851

G

exostosin glycosyltransferase 2

ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I

PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447

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 chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447

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

NCBI chr 5:75,139,852...75,321,695
Ensembl chr 5:80,532,058...80,600,403

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: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal

PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14645423 More...

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

myeloid sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 2

associated with Leukemia, Myeloid, Acute;protein:increased expression:blood, leukocyte

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

KRAS proto-oncogene, GTPase

associated with Leukemia, Myeloid, Acute;DNA:missense mutation:exon:p.G12C (human)

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

platelet derived growth factor receptor alpha

treatment

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

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 chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701

G

FUS RNA binding protein

CTD Direct Evidence: marker/mechanism

PMID:7503811 PMID:8510758

NCBI chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327

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 chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

Nasopalpebral Lipoma Coloboma Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger DBF-type containing 2

ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome

PMID:23636874 PMID:27139419

NCBI chr2B:93,516,875...93,556,652
Ensembl chr2B:211,645,765...211,685,047

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 chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

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 chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735

G

arachidonate 5-lipoxygenase activating protein

mRNA, protein:increased expression:neuroblastoma (human)

NCBI chr13:12,012,399...12,041,557
Ensembl chr13:30,425,510...30,476,607

G

AT-rich interaction domain 1A

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

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

AT-rich interaction domain 1B

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

NCBI chr 6:154,581,148...155,018,706

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

PMID:23334666 PMID:26523776

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

aurora kinase A

CTD Direct Evidence: marker/mechanism

NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339

G

BRCA1 associated RING domain 1

CTD Direct Evidence: marker/mechanism

PMID:19412175 PMID:23334666

NCBI chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

G

baculoviral IAP repeat containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

G

baculoviral IAP repeat containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Neuroblastoma

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

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

CD44 molecule (IN blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009

G

CD55 molecule (Cromer blood group)

NCBI chr 1:182,923,369...182,962,518
Ensembl chr 1:187,201,081...187,240,350

G

cyclin dependent kinase inhibitor 2A

treatment

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:24714808

NCBI chr 9:21,803,862...21,831,322

G

chromatin assembly factor 1 subunit A

disease_progression

mRNA:increased expression: :

NCBI chr19:3,425,182...3,461,646
Ensembl chr19:4,375,379...4,409,339

G

chromodomain helicase DNA binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,867,636...4,947,401
Ensembl chr 1:6,125,525...6,191,991

G

chromodomain helicase DNA binding protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr20:37,744,012...37,953,593
Ensembl chr20:38,839,685...38,999,501

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:9,757,038...9,811,171

G

dopamine beta-hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697

G

dedicator of cytokinesis 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

FA complementation group A

ClinVar Annotator: match by term: Neuroblastoma

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

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Neuroblastoma

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

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Neuroblastoma

PMID:26822237 PMID:28492532

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr20:55,190,607...55,262,245

G

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:102,541,992...102,674,281
Ensembl chr 6:106,419,867...106,551,007

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:165,755,000...165,758,735

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:26121086

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

interferon beta 1

CTD Direct Evidence: therapeutic

NCBI chr 9:20,884,742...20,886,317

G

insulin like growth factor 1 receptor

protein: decreased tyrosine phosphorylation: : Y1131

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

insulin like growth factor 2 mRNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:8,479,806...8,538,336
Ensembl chr17:8,468,240...8,519,552

G

interleukin 18

susceptibility

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

ISL LIM homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674

G

kinesin family member 1B

susceptibility

ClinVar Annotator: match by term: KIF1B-related condition | ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1

PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 More...

NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

lin-28 homolog B

CTD Direct Evidence: marker/mechanism

PMID:22941191 PMID:23042116

NCBI chr 6:102,755,256...102,897,739
Ensembl chr 6:106,640,448...106,772,374

G

LIM domain only 1

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 7

PMID:21124317 PMID:26560027

NCBI chr11:8,342,318...8,386,659
Ensembl chr11:8,088,223...8,132,215

G

uncharacterized LOC100995589

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr2A:15,923,366...15,926,680

G

mitogen-activated protein kinase kinase 4

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909

G

mitogen-activated protein kinase kinase 7

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512

G

menin 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

mitochondrial fission process 1

severity

mRNA:increased expression:neural tissue (human)

NCBI chr22:11,461,119...11,464,739
Ensembl chr22:29,262,118...29,265,700

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194

G

MYC proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Neuroblastoma

PMID:25157968 PMID:26619011

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr2A:15,925,130...15,931,605

G

NME/NM23 nucleoside diphosphate kinase 1

NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636

G

neuronatin

CTD Direct Evidence: marker/mechanism

NCBI chr20:33,842,071...33,845,575
Ensembl chr20:34,955,234...34,959,493

G

nodal growth differentiation factor

mRNA:increased expression:neural tissue (human)

NCBI chr10:66,906,866...66,916,938
Ensembl chr10:69,433,959...69,443,972

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Neuroblastoma

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

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

nuclear receptor binding SET domain protein 1

severity

DNA:hypermethylation:promoter:CpG islands (human)

NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351

G

5'-nucleotidase ecto

CTD Direct Evidence: therapeutic

NCBI chr 6:83,333,428...83,379,585
Ensembl chr 6:86,615,409...86,661,601

G

neurotrophic receptor tyrosine kinase 1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:8433391 PMID:16989911

Ensembl chr 1:136,007,476...136,047,355

G

neurotrophic receptor tyrosine kinase 2

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678

G

p21 (RAC1) activated kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr19:36,224,442...36,278,371
Ensembl chr19:44,816,601...44,825,827

G

platelet and endothelial cell adhesion molecule 1

human tumor in mouse model

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

PHD finger protein 6

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr X:123,521,956...123,578,256
Ensembl chr X:133,822,260...133,873,990

G

paired like homeobox 2B

exacerbates

human cell line in a mouse model
ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449

G

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

ClinVar Annotator: match by term: Neuroblastoma

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

PTEN induced kinase 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 1:19,583,330...19,601,248
Ensembl chr 1:20,627,693...20,645,560

G

proteasome 26S subunit, non-ATPase 14

CTD Direct Evidence: marker/mechanism

NCBI chr2B:48,602,395...48,705,229
Ensembl chr2B:165,972,229...166,074,879

G

patched 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:25741868 PMID:28492532

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

protein tyrosine phosphatase non-receptor type 14

CTD Direct Evidence: marker/mechanism

NCBI chr 1:189,925,706...190,120,232
Ensembl chr 1:194,780,068...194,887,798

G

Ras association domain family member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,107,396...182,191,346
Ensembl chr 1:186,388,571...186,471,134

G

RNA binding motif protein 15

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 1:112,987,871...112,996,054
Ensembl chr 1:127,320,147...127,354,537

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

sodium channel epithelial 1 subunit alpha

disease_progression

Low levels of methylation correlate with improved survival

NCBI chr12:6,475,723...6,506,443

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Neuroblastoma

PMID:21979946 PMID:25741868 PMID:28492532

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

G

semaphorin 3B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:50,196,147...50,205,744
Ensembl chr 3:51,430,287...51,439,886

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952

G

small nuclear ribonucleoprotein polypeptide E

severity

mRNA:decreased expression:neuroblastoma (human)

NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937

G

T-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

Ensembl chr 5:1,300,960...1,338,872

G

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137

G

tumor protein p53

ClinVar Annotator: match by term: Neuroblastoma

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tumor protein p73

no_association

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

G

TSC complex subunit 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

G

TSC complex subunit 2

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301

G

zinc finger protein 276

ClinVar Annotator: match by term: Neuroblastoma

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

NCBI chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192

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:14566559 PMID:14608649 PMID:15024693 PMID:15121777 More...

NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449

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 chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735

G

CAP-Gly domain containing linker protein family member 4

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

NCBI chr2A:29,120,679...29,189,021
Ensembl chr2A:29,180,601...29,272,876

G

photoreceptor cilium actin regulator

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

NCBI chr2A:29,069,651...29,082,796
Ensembl chr2A:29,147,730...29,160,296

G

TOG array regulator of axonemal microtubules 2

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

NCBI chr2A:28,988,636...29,060,548
Ensembl chr2A:29,067,528...29,138,303

G

WD repeat domain 43

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

NCBI chr2A:28,901,521...28,955,579
Ensembl chr2A:28,987,883...29,033,049

neurofibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

MAX interactor 1, dimerization protein

ClinVar Annotator: match by term: Neurofibrosarcoma

NCBI chr10:106,799,511...106,878,697

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

vascular endothelial growth factor A

protein:increased expression:peripheral nerve

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

oculoectodermal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

clusterin associated protein 1

ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome

NCBI chr16:2,423,563...2,461,486
Ensembl chr16:3,600,370...3,637,622

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome

PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

NLR family pyrin domain containing 5

ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome

PMID:20738330 PMID:26323243

NCBI chr19:53,021,034...53,083,590
Ensembl chr19:61,818,345...61,879,538

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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

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 chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

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:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

calcium/calmodulin dependent protein kinase II beta

disease_progression

NCBI chr 7:44,930,859...45,040,078
Ensembl chr 7:45,001,267...45,110,342

G

capicua transcriptional repressor

ClinVar Annotator: match by term: Oligodendroglioma

NCBI chr19:39,156,204...39,183,498
Ensembl chr19:47,751,520...47,774,699

G

deltex E3 ubiquitin ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:110,661,247...110,702,780
Ensembl chr12:114,046,700...114,085,372

G

epidermal growth factor

susceptibility

DNA:polymorphism:promoter:GG genotypes were associated with increased risk.

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Oligodendroglioma

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:21446021 More...

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

prostaglandin E synthase 3

protein:increased expression:brain cortex, white matter (human)

NCBI chr12:32,221,908...32,247,228
Ensembl chr12:32,476,835...32,503,181

G

RB transcriptional corepressor 1

disease_progression

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

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 chr11:44,219,865...44,269,597

G

C-X3-C motif chemokine receptor 1

onset

associated with Neurofibromatosis 1

NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219

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 chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

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 chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

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 6:149,058,350...149,176,710
Ensembl chr 6:153,757,081...153,873,925

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 chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Osteosarcoma, somatic

PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More...

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:32,497,931...32,624,307
Ensembl chr X:40,202,235...40,249,986

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

G

BRCA2 DNA repair associated

DNA:nonsense mutation

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600

G

Cbl proto-oncogene

protein:decreased expression:bone

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

cyclin B3

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,409,954...42,511,811
Ensembl chr X:50,157,122...50,223,547

G

cell division cycle 5 like

DNA:amplification:cds (human)

NCBI chr 6:43,983,840...44,043,029
Ensembl chr 6:45,265,845...45,326,383

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 chr 9:21,803,862...21,831,322

G

checkpoint kinase 2

ClinVar Annotator: match by term: Osteosarcoma, somatic

PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More...

NCBI chr22:9,757,038...9,811,171

G

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

DNA:deletion (rat)

NCBI chr 6:137,134,142...137,136,550

G

C-X-C motif chemokine receptor 4

ameliorates

human cells in mouse model

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

cytochrome P450 family 3 subfamily A member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:91,797,037...91,824,696
Ensembl chr 7:105,230,666...105,258,401

G

discoidin domain receptor tyrosine kinase 1

severity

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

NCBI chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455

G

dihydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003

G

E2F transcription factor 1

severity

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

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

G

EGF containing fibulin extracellular matrix protein 2

exacerbates

human EFEMP2 knockdown cell line in a mouse model

NCBI chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

early growth response 1

mRNA:decreased expression:tumor (human)

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

eukaryotic translation initiation factor 2 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:47,935,691...47,960,055
Ensembl chr14:66,813,953...66,839,866

G

ERCC excision repair 1, endonuclease non-catalytic subunit

severity

DNA:silent mutation:cds:p.N118N (human)

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

estrogen related receptor alpha

CTD Direct Evidence: marker/mechanism

PMID:24967384 PMID:34524571

NCBI chr11:59,662,565...59,673,789
Ensembl chr11:63,009,295...63,018,744

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:14767549 PMID:26265454

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

glutamate metabotropic receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:33,592,030...33,718,712
Ensembl chr 6:34,696,058...34,830,868

G

glutathione S-transferase mu 3

NCBI chr 1:112,380,890...112,384,988
Ensembl chr 1:127,957,008...127,960,578

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

histone deacetylase 6

CTD Direct Evidence: marker/mechanism

NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642

G

hydroxysteroid 17-beta dehydrogenase 10

treatment

NCBI chr X:45,645,849...45,649,039
Ensembl chr X:53,754,164...53,757,643

G

interleukin 3

NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:58,042,794...58,045,536

G

potassium voltage-gated channel subfamily H member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:186,233,881...186,696,509
Ensembl chr 1:191,107,256...191,562,766

G

folate receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr11:67,268,721...67,275,498
Ensembl chr11:70,492,039...70,498,665

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717

G

leucine zipper and CTNNBIP1 domain containing

NCBI chr 1:8,698,579...8,712,867
Ensembl chr 1:9,928,998...9,942,490

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

mutS homolog 2

disease_progression

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

mutS homolog 6

disease_progression

NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

G

macrophage stimulating 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:49,818,538...49,835,713
Ensembl chr 3:51,054,795...51,072,401

G

methylenetetrahydrofolate reductase

treatment

DNA:transition:cds:g.677C>T (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:34508303

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

nuclear receptor subfamily 1 group I member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129

G

pleckstrin homology like domain family A member 2

CTD Direct Evidence: therapeutic

NCBI chr11:2,953,864...2,954,923

G

peroxiredoxin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369

G

polypyrimidine tract binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:319,953...334,945

G

parathyroid hormone

human protein in rat model

NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802

G

protein tyrosine phosphatase receptor type B

disease_progression

mRNA:decreased expression:bone (human)

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Osteosarcoma, somatic

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

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

replication factor C subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548

G

regulator of G protein signaling 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:168,039,235...168,043,516
Ensembl chr 1:172,333,866...172,337,401

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:25307878

NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389

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 chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662

G

TATA-box binding protein associated factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr17:20,948,186...20,985,925

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,314,850...32,327,067
Ensembl chr 9:33,124,730...33,135,129

G

tumor protein p53

ClinVar Annotator: match by term: Osteosarcoma, somatic

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

G

zinc finger MIZ-type containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:75,581,794...75,829,748
Ensembl chr10:78,294,867...78,492,475

G

zw10 kinetochore protein

CTD Direct Evidence: marker/mechanism

NCBI chr11:108,611,818...108,652,444
Ensembl chr11:112,454,637...112,495,316

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...

Ensembl chr 8:144,267,101...144,276,985

PERITONEAL GLIOMATOSIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 36C

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr2A:103,323,106...103,447,651

G

Fc gamma receptor Ia

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr 1:125,127,073...125,136,911
Ensembl chr 1:128,805,484...128,814,220

G

histone H2B type 2-F

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr 1:125,100,206...125,156,882

Phyllodes Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1A

severity

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

catenin beta 1

protein:increased expression:nucleus

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

epidermal growth factor receptor

disease_progression

protein:increased expression:tumor

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

erb-b2 receptor tyrosine kinase 3

disease_progression

NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994

G

erb-b2 receptor tyrosine kinase 4

disease_progression

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

G

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chr X:143,799,088...143,825,282

G

hypoxia inducible factor 1 subunit alpha

severity

protein:increased expression:breast (human)

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

KIT proto-oncogene, receptor tyrosine kinase

severity

protein:increased expression:tumor:significantly more malignant tumors positive for KIT (46%) vs benign (17%) or borderline (24%), p=0.001

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

lysine methyltransferase 2D

CTD Direct Evidence: marker/mechanism

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

mediator complex subunit 12

CTD Direct Evidence: marker/mechanism

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

nitric oxide synthase 3

protein:increased expression:breast

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

proliferating cell nuclear antigen

disease_progression

NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440

G

retinoic acid receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:16,932,485...16,980,958

G

RB transcriptional corepressor 1

severity

protein:increased expression:breast

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

G

transferrin receptor

protein:increased expression:myoepithelial cell

NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998

G

tumor protein p53

disease_progression

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

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 chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160

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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

neurofibromin 1

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

ret proto-oncogene

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:25741868 PMID:28492532

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

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...

Ensembl chr 5:356,087...399,923

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 chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

placental site trophoblastic tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glypican 3

protein:increased expression:placenta, trophoblast cells (human)

NCBI chr X:122,677,072...123,131,511
Ensembl chr X:132,979,612...133,432,441

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 chr22:10,323,622...10,356,039
Ensembl chr22:28,131,109...28,163,134

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

PMS1 homolog 2, mismatch repair system component

CTD Direct Evidence: marker/mechanism

NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

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 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

Primitive Peripheral Neuroectodermal Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

prostate malignant phyllodes tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kallikrein related peptidase 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:47,820,320...47,827,868
Ensembl chr19:56,712,305...56,718,123

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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072

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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211

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 chr 3:85,076,738...86,200,515
Ensembl chr 3:87,200,482...88,310,438

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr 9:21,803,862...21,831,322

G

dicer 1, ribonuclease III

exacerbates

DNA:deletion:haploinsufficiency

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

G

FA complementation group M

ClinVar Annotator: match by term: Retinoblastoma

NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958

G

Fas cell surface death receptor

severity

protein:decreased expression:tumor (human)

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

interferon beta 1

ameliorates

NCBI chr 9:20,884,742...20,886,317

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 chr13:29,383,318...29,412,018

G

lysine demethylase 1B

mRNA:increased expression:retina (human)

NCBI chr 6:18,002,763...18,071,598
Ensembl chr 6:18,355,907...18,425,552

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 chr13:29,561,219...29,567,414
Ensembl chr13:48,263,254...48,264,291

G

MYC associated factor X

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr14:45,588,366...45,683,828
Ensembl chr14:64,535,120...64,562,671

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 chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836

G

O-6-methylguanine-DNA methyltransferase

disease_progression

DNA:hypermethylation:promoter (human)

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

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

NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Retinoblastoma

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

NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645

G

neurofibromin 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

nudix hydrolase 15

ClinVar Annotator: match by term: Retinoblastoma

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

NCBI chr13:29,189,459...29,198,825
Ensembl chr13:47,891,557...47,900,971

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Retinoblastoma

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

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

patched 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

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 chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

serpin family F member 1

treatment

human protein and tumor xenograft in a mouse model

NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

G

synuclein gamma

NCBI chr10:83,383,566...83,391,064

G

succinate-CoA ligase ADP-forming subunit beta

ClinVar Annotator: match by term: Retinoblastoma

PMID:17096365 PMID:28492532

NCBI chr13:29,095,062...29,189,618
Ensembl chr13:47,797,472...47,856,138

Rhabdomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

rhabdomyosarcoma

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: Rhabdomyosarcoma

NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735

G

angiopoietin 2

protein:increased expression:blood vessel (rat)

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:12920083 PMID:16287141 PMID:19370767 PMID:20104584 PMID:21232165 More...

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:8589730 PMID:8988179 PMID:10188893 PMID:10790213 PMID:11802209 More...

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More...

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

cyclin dependent kinase inhibitor 2A

DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle

NCBI chr 9:21,803,862...21,831,322

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:86,017,141...86,044,889

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More...

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:19809159 PMID:24124571

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

insulin like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

mutS homolog 2

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 More...

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

mutS homolog 6

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 More...

NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

G

neurofibromin 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:9536098 More...

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:2440087 PMID:7629132 PMID:9756907 PMID:10037723 PMID:15077197 More...

NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984

G

patched 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 More...

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prothymosin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2B:118,959,382...118,964,364

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 More...

Ensembl chr 5:356,087...399,923

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 More...

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

G

solute carrier family 22 member 18

ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic

NCBI chr11:2,927,586...2,950,801
Ensembl chr11:2,956,086...2,978,958

G

translocase of inner mitochondrial membrane 10

CTD Direct Evidence: marker/mechanism

NCBI chr11:52,769,429...52,771,763
Ensembl chr11:56,241,078...56,243,351

G

tumor protein p53

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

ring dermoid of cornea

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeodomain 2

ClinVar Annotator: match by term: Ring dermoid of cornea

PMID:15378534 PMID:15591271 PMID:22569110 PMID:25741868 PMID:26220699 More...

NCBI chr 4:103,112,624...103,137,356

round cell sarcoma with EWSR1-non-ETS fusion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EWS RNA binding protein 1

ClinVar Annotator: match by term: EWSR1-related condition

NCBI chr22:10,323,622...10,356,039
Ensembl chr22:28,131,109...28,163,134

sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylosuccinate synthase 1

protein:decreased activity:tumor (rat)

Ensembl chr14:105,169,769...105,190,333

G

adenylosuccinate synthase 2

protein:increased activity:tumor (rat)

NCBI chr 1:220,020,480...220,063,658
Ensembl chr 1:225,401,544...225,444,984

G

ATPase family AAA domain containing 5

susceptibility

NCBI chr17:25,944,259...26,009,317
Ensembl chr17:25,436,195...25,496,242

G

ATRX chromatin remodeler

protein:decreased expression: :

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

C-C motif chemokine ligand 2

protein:increased expression:serum (rat)

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

cyclin G1

treatment

mRNA:decreased expression: (human)

PMID:19532136 PMID:27982046

RGD:151361200 RGD:151361204

NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728

G

checkpoint kinase 2

ClinVar Annotator: match by term: Sarcoma

PMID:15145354 PMID:21876083 PMID:24713400 PMID:25741868 PMID:28492532

NCBI chr22:9,757,038...9,811,171

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Sarcoma

PMID:25741868 PMID:28492532

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

FUS RNA binding protein

PMID:21658743 PMID:21677541

RGD:5509905 RGD:5509906

NCBI chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

heat shock protein family B (small) member 1

disease_progression

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

G

interferon gamma

CTD Direct Evidence: therapeutic

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

kinase insert domain receptor

protein:increased expression:uterus

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

kinetochore scaffold 1

treatment

NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858

G

mastermind like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:132,082,120...132,518,928
Ensembl chr 4:143,391,606...143,562,699

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086

G

MDM2 proto-oncogene

DNA:amplification:cds (human)

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:tumor (human)

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

mutS homolog 2

ClinVar Annotator: match by term: Sarcoma

PMID:16395668 PMID:18383312 PMID:19389263 PMID:22290698 PMID:24033266 More...

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

8-oxoguanine DNA glycosylase

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

paired box 3

CTD Direct Evidence: marker/mechanism

NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874

G

pyruvate dehydrogenase complex component X

treatment

NCBI chr11:34,889,242...34,968,886
Ensembl chr11:34,764,450...34,844,166

G

platelet and endothelial cell adhesion molecule 1

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

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

ClinVar Annotator: match by term: Sarcoma

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

protein tyrosine phosphatase receptor type B

treatment

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662

G

sterol regulatory element binding transcription factor 2

treatment

NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

PMID:9794839 PMID:15675481 PMID:16767912 PMID:17203757

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

tumor protein p53

onset
treatment

ClinVar Annotator: match by term: Sarcoma

PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 More...

RGD:11075090 RGD:151660332

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

Sarcoma, Yoshida

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dihydropyrimidine dehydrogenase

treatment

NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100

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 chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453

smooth muscle tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

Soft Tissue Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 apoptosis regulator

CTD Direct Evidence: therapeutic

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

small nuclear ribonucleoprotein D3 polypeptide

severity

mRNA, protein:increased expression:multiple (human)

NCBI chr22:5,361,886...5,378,465
Ensembl chr22:22,227,328...22,246,676

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

PMID:16767912 PMID:17203757

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

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

Ensembl chr12:32,085,031...32,091,498

G

signal transducer and activator of transcription 6

CTD Direct Evidence: marker/mechanism

PMID:23313952 PMID:23313954

Ensembl chr12:32,068,679...32,085,099

spindle cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by term: Spindle cell sarcoma

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

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 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400

G

interleukin 6 cytokine family signal transducer

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome

PMID:25741868 PMID:31914175

NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817

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 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267

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 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400

G

LIF receptor subunit alpha

ClinVar Annotator: match by term: LIFR-related condition | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1

PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More...

NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267

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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532

NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042

G

interleukin 6 cytokine family signal transducer

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532 PMID:31914175

NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532

NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582

subependymal giant cell astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma

PMID:25741868 PMID:28492532

NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729

subserous uterine fibroid

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914

synovial sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 apoptosis regulator

CTD Direct Evidence: therapeutic

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

SHC binding and spindle associated 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:26,847,164...26,890,762
Ensembl chr16:45,741,101...45,783,632

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921

G

SS18 subunit of BAF chromatin remodeling complex

CTD Direct Evidence: marker/mechanism

PMID:7951320 PMID:9428816 PMID:27572315

NCBI chr18:19,274,395...19,349,311
Ensembl chr18:22,883,522...22,957,996

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642

systemic mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Systemic mast cell disease

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

teratocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha fetoprotein

protein:increased expression:serum

NCBI chr 4:50,739,197...50,758,459
Ensembl chr 4:56,571,519...56,590,391

G

DAB adaptor protein 2

ClinVar Annotator: match by term: Teratocarcinoma

NCBI chr 5:70,951,198...71,004,836
Ensembl chr 5:76,022,143...76,041,443

G

DND microRNA-mediated repression inhibitor 1

compared to WKY

NCBI chr 5:136,035,464...136,038,524
Ensembl chr 5:142,151,441...142,154,262

teratoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALF transcription elongation factor 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 4:79,197,196...79,443,485
Ensembl chr 4:89,969,675...90,166,160

G

Rho guanine nucleotide exchange factor 10 like

ClinVar Annotator: match by term: Teratoma

NCBI chr 1:16,486,514...16,644,724
Ensembl chr 1:17,580,389...17,697,195

G

BCL2 associated X, apoptosis regulator

disease_progression

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Teratoma

NCBI chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569

G

cAMP responsive element binding protein 3 like 1

ClinVar Annotator: match by term: Teratoma

NCBI chr11:46,236,384...46,280,145
Ensembl chr11:46,788,561...46,830,246

G

CREB binding protein

ClinVar Annotator: match by term: Teratoma

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

cripto, EGF-CFC family member

treatment

NCBI chr 3:46,473,282...46,478,454
Ensembl chr 3:47,577,949...47,583,126

G

catenin beta 1

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

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

DEAD-box helicase 6

ClinVar Annotator: match by term: Teratoma

NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364

G

endothelial PAS domain protein 1

ClinVar Annotator: match by term: Teratoma

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

G

erb-b2 receptor tyrosine kinase 4

ClinVar Annotator: match by term: Teratoma

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

G

ethanolamine kinase 1

ClinVar Annotator: match by term: Teratoma

NCBI chr12:63,623,723...63,690,306
Ensembl chr12:66,237,566...66,297,223

G

fms related receptor tyrosine kinase 4

ClinVar Annotator: match by term: Teratoma

NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Teratoma

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

IKAROS family zinc finger 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245

G

kinase insert domain receptor

ClinVar Annotator: match by term: Teratoma

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Teratoma

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

polycomb protein SUZ12

ClinVar Annotator: match by term: Teratoma

NCBI chr17:24,790,921...24,853,790

G

Nanog homeobox

severity

mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell

NCBI chr12:7,913,037...7,919,715

G

NME/NM23 nucleoside diphosphate kinase 1

DNA:deletion

NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636

G

NME/NM23 nucleoside diphosphate kinase 2

DNA:deletion

NCBI chr17:45,255,982...45,261,541

G

poly(A) binding protein cytoplasmic 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 8:97,346,433...97,365,628
Ensembl chr 8:99,518,347...99,537,614

G

phosphoglucomutase 1

NCBI chr 1:62,849,451...62,916,359
Ensembl chr 1:64,658,599...64,725,496

G

phosphoglucomutase 3

NCBI chr 6:81,062,356...81,090,215
Ensembl chr 6:84,336,092...84,364,515

G

DNA polymerase theta

ClinVar Annotator: match by term: Teratoma

NCBI chr 3:118,535,968...118,648,275
Ensembl chr 3:125,446,829...125,559,283

G

protein tyrosine phosphatase receptor type B

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

G

rabaptin, RAB GTPase binding effector protein 1

ClinVar Annotator: match by term: Teratoma

NCBI chr17:5,330,477...5,434,250
Ensembl chr17:5,344,966...5,426,160

G

SET domain containing 2, histone lysine methyltransferase

ClinVar Annotator: match by term: Teratoma

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

G

solute carrier family 45 member 3

ClinVar Annotator: match by term: Teratoma

NCBI chr 1:181,266,533...181,289,536
Ensembl chr 1:185,552,015...185,566,359

G

staphylococcal nuclease and tudor domain containing 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 7:119,647,536...120,084,110
Ensembl chr 7:132,302,235...132,738,223

G

telomerase reverse transcriptase

mRNA:decreased expression

Ensembl chr 5:1,300,960...1,338,872

G

transformation/transcription domain associated protein

ClinVar Annotator: match by term: Teratoma

NCBI chr 7:90,845,518...90,981,700
Ensembl chr 7:104,351,320...104,486,722

G

thymidine phosphorylase

protein:increased expression:testis

NCBI chr22:30,772,088...30,776,618

G

Wnt family member 2B

mRNA:increased expression:tumor

NCBI chr 1:115,119,360...115,177,942
Ensembl chr 1:125,173,906...125,230,675

trilateral retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Trilateral retinoblastoma

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

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiogenin

protein:increased expression:serum

NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393

G

KiSS-1 metastasis suppressor

Gestational Trophoblastic Neoplasms, MeSH:D031901; protein:increased expression:plasma:pre-chemotherapy levels significantly elevated vs normal or post-chemotherapy (p<0.0001)

urticaria pigmentosa

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, MACULOPAPULAR CUTANEOUS

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

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

uterine carcinosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

disease_progression

NCBI chr 9:21,803,862...21,831,322

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

erb-b2 receptor tyrosine kinase 3

ClinVar Annotator: match by term: Uterine carcinosarcoma

NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:25741868 PMID:26619011

NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More...

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Uterine carcinosarcoma

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

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

KIT proto-oncogene, receptor tyrosine kinase

Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%)

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Uterine carcinosarcoma

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

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

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

ClinVar Annotator: match by term: Uterine carcinosarcoma

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:19962457 PMID:25157968 PMID:26619011

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More...

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

G

protein phosphatase 2 scaffold subunit Aalpha

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 More...

NCBI chr19:49,133,295...49,169,447
Ensembl chr19:58,011,383...58,047,577

G

prominin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Uterine carcinosarcoma

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

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

tumor protein p53

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:960674 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011

NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086

uterine fibroid

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

susceptibility

DNA:polymorphisms: :

NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868

G

Bet1 golgi vesicular membrane trafficking protein like

DNA:SNP:rs2280543(human)

NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762

G

collagen type IV alpha 1 chain

DNA:hypomethylation:uterus (human)

NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529

G

collagen type IV alpha 2 chain

DNA:hypomethylation:uterus (human)

NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530

G

collagen type VI alpha 3 chain

mRNA:increased expression:uterus (human)

NCBI chr2B:124,554,478...124,644,482

G

death associated protein kinase 1

mRNA:decreased expression:uterus (human)

NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958

G

distal-less homeobox 3

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848

G

fumarate hydratase

ClinVar Annotator: match by term: Uterine leiomyoma

PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

G

glutathione S-transferase mu 5

DNA:hypermethylation:uterus (human)

NCBI chr 1:112,356,184...112,361,731
Ensembl chr 1:127,979,238...128,010,411

G

high mobility group AT-hook 2

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr12:22,954,946...23,096,623

G

insulin receptor substrate 1

mRNA:increased expression:uterus (human)

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

G

mediator complex subunit 12

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

NUAK family kinase 1

mRNA:decreased expression:uterus (human)

NCBI chr12:103,642,744...103,720,352
Ensembl chr12:107,037,627...107,113,163

G

patched 1

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914

G

TSC complex subunit 2

OMIM:150699

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

uterus interstitial leiomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 like 1

associated with Carcinoma, Renal Cell;protein:increased expression:uterus

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

Vascular Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

delta like canonical Notch ligand 4

NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471

von Hippel-Lindau disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545

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 chr11:64,737,006...64,750,353

G

endothelial PAS domain protein 1

protein:increased expression:kidney:

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

G

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629

G

matrix metallopeptidase 3

onset

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

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 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

solute carrier family 18 member A1

mRNA:increased expression:tumor (human)

NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708

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:4843792 More...

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

X-linked cardiac valvular dysplasia

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: Cardiac valvular dysplasia, X-linked

PMID:10330348 PMID:12815592 PMID:19691550 PMID:21665257 PMID:23807571 More...

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

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:9071288 PMID:9497244 More...

NCBI chr X:143,799,088...143,825,282

Term paths to the root

Path 1
Term	Annotations
disease	15811
disease of cellular proliferation	7490
Neoplasms by Histologic Type	5192
Connective and Soft Tissue Neoplasms	1914
Adipose Tissue Neoplasms +	22
Connective Tissue Neoplasms +	1801
Muscle Tissue Neoplasms +	186
Soft Tissue Neoplasms +	187
perivascular epithelioid cell tumor +	25
sarcoma +	271

paths to the root