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

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

show annotations for term's descendants Sort by:
Rat (2081) Mouse (2261) Human (32734) Chinchilla (1749) Bonobo (1914) Dog (2095) 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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RGD Reference(s)

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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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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

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

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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

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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:24690944 PMID:25741868 PMID:28371217 PMID:28492532

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:10617473 PMID:11053450 PMID:11298456 PMID:11390408 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:9311732 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

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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

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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

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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

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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

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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

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

ClinVar Annotator: match by term: Cerebellar medulloblastoma

NCBI 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:11170095 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