sarcoma - 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:	sarcoma	go back to main search page
Accession:	DOID:1115	browse the term
Definition:	A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)
Synonyms:	exact_synonym:	connective and soft tissue neoplasm; sarcomas; tumor of soft tissue and skeleton
	narrow_synonym:	soft tissue sarcoma; soft tissue sarcomas
	primary_id:	MESH:D012509
	xref:	EFO:0000691; EFO:1001968; ICD9CM:171.9; ICDO:8800/3; NCI:C128195; NCI:C132276; NCI:C21603; NCI:C60505; NCI:C9118; NCI:C9306
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (390) Mouse (508) Human (2914) Chinchilla (258) Bonobo (272) Dog (472) Squirrel (260) Pig (269) Green Monkey (266) Naked Mole-rat (253) All
Genes (285) Strains (2) Cell Lines (103)

sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylosuccinate synthase 1

protein:decreased activity:tumor (rat)

RGD

NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998

G

adenylosuccinate synthase 2

protein:increased activity:tumor (rat)

RGD

NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604

G

ATPase family, AAA domain containing 5

susceptibility

RGD

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

G

ATRX, chromatin remodeler

protein:decreased expression: :

RGD

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

G

C-C motif chemokine ligand 2

protein:increased expression:serum (rat)

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

cyclin G1

treatment

mRNA:decreased expression: (human)

RGD

PMID:27982046 PMID:19532136

RGD:151361200, RGD:151361204

NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641

G

checkpoint kinase 2

ClinVar Annotator: match by term: Sarcoma

PMID:15145354 PMID:21876083 PMID:24713400 PMID:25741868 PMID:28492532

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

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Sarcoma

PMID:25741868 PMID:28492532

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

G

Fus RNA binding protein

RGD

PMID:21677541 PMID:21658743

RGD:5509905, RGD:5509906

NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

heat shock protein family B (small) member 1

disease_progression

RGD

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

interferon gamma

CTD Direct Evidence: therapeutic

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

kinase insert domain receptor

protein:increased expression:uterus

RGD

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

G

kinetochore scaffold 1

treatment

RGD

NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915

G

mastermind-like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303

G

MDM2 proto-oncogene

DNA:amplification:cds (human)

RGD

NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:tumor (human)

RGD

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

G

mutS homolog 2

ClinVar Annotator: match by term: Sarcoma

PMID:16395668 PMID:18383312 PMID:19389263 PMID:22290698 PMID:24033266 More...

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

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

G

8-oxoguanine DNA glycosylase

RGD

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

G

paired box 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042

G

pyruvate dehydrogenase complex, component X

treatment

RGD

NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:89,371,497...89,431,773

G

platelet and endothelial cell adhesion molecule 1

RGD

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

G

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

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

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

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

G

PRAME like, X-linked 1

CTD Direct Evidence: marker/mechanism

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

G

protein tyrosine phosphatase, receptor type, B

treatment

RGD

NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748

G

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

CTD Direct Evidence: marker/mechanism

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

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

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

G

sterol regulatory element binding transcription factor 2

treatment

RGD

NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

PMID:9794839 PMID:15675481 PMID:16767912 PMID:17203757

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

G

tumor protein p53

treatment
onset

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

ClinVar
CTD
RGD

PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 More...

RGD:1331525, RGD:151660332, RGD:11075090

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

AIDS-Related Kaposi Sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

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

alveolar rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790

G

paired box 3

DNA:translocations: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma

CTD
ClinVar
OMIM
RGD

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

NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042

G

paired box 7

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2

OMIM
CTD
ClinVar

PMID:25741868 PMID:31092906 PMID:32214227

NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

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

G

WW domain containing transcription regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968

alveolar soft part sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASPSCR1 tether for SLC2A4, UBX domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr10:105,952,215...105,990,059
Ensembl chr10:105,952,227...105,989,904

Angiomatoid Fibrous Histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cAMP responsive element binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816

angiosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

cyclin D1

CTD Direct Evidence: marker/mechanism

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

G

collagen type XVIII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

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

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

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

G

Fms related receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

gap junction protein, alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

potassium calcium-activated channel subfamily N member 4

ameliorates

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

RGD

PMID:27531900 PMID:27531900

RGD:329955561, RGD:329955561

NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340

G

kinase insert domain receptor

CTD Direct Evidence: marker/mechanism

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

G

KRAS proto-oncogene, GTPase

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

PMID:8456858 PMID:10930038 PMID:12211074 PMID:13678655 PMID:20147967 More...

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

G

mediator complex subunit 12

ClinVar Annotator: match by term: Angiosarcoma

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

G

MYC proto-oncogene, bHLH transcription factor

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

CTD
RGD

PMID:17569031 PMID:26440310

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

G

phospholipase C, gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330

G

protein tyrosine phosphatase, receptor type, B

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

CTD
RGD

PMID:24633157 PMID:26440310 PMID:24633157

RGD:151665099, RGD:151361292

NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748

G

signal transducer and activator of transcription 3

protein:increased phosphorylation:blood vessel

RGD

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

TEK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804

G

tumor protein p53

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

CTD
RGD

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

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

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

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

G

vascular endothelial growth factor C

CTD Direct Evidence: marker/mechanism

NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848

atypical teratoid rhabdoid tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

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

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

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

G

derlin 3

ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1

NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027

G

glypican 3

protein:increased expression:brain (human)

RGD

NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798

G

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

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical
OMIM:609322

CTD
OMIM
ClinVar
MouseDO

PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More...

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

G

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

ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1

PMID:25741868 PMID:28492532

NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989

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

Avian Sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ras homolog family member B

RGD

NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108

bone osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Bone osteosarcoma

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

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

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Bone osteosarcoma

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

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

G

checkpoint kinase 2

ClinVar Annotator: match by term: Bone osteosarcoma

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

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

G

EGF containing fibulin extracellular matrix protein 2

exacerbates
disease_progression

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

RGD

PMID:28339091 PMID:27157136

RGD:42722011, RGD:42722013

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

ERCC excision repair 2, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Bone osteosarcoma

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

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

G

tumor protein p53

ClinVar Annotator: match by term: Bone osteosarcoma

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

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

G

TSC complex subunit 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:25741868 PMID:26822237

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

breast angiosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

DNA:mutation:multiple (human)

RGD

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

G

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

DNA:mutation:multiple (human)

RGD

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

G

protein tyrosine phosphatase, receptor type, B

DNA:mutation:multiple (human)

RGD

NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748

carcinosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

Carney Triad

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

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

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

NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

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 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: 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 chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253

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)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

collagen type II alpha 1 chain

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

CTD
RGD

PMID:23770606 PMID:23770606

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

exostosin glycosyltransferase 1

ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:epiphyseal plate (human)

OMIM
ClinVar
CTD
RGD

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

NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357

G

fibroblast growth factor receptor 3

protein:increased expression:growth plate

RGD

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

G

mechanistic target of rapamycin kinase

disease_progression

RGD

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

G

TATA-box binding protein associated factor 15

extraskeletal myxoid chondrosarcomas (EMC)

RGD

NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,272,969...68,304,949

choriocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

testicular germ cell neoplasms

RGD

NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359

G

insulin-like growth factor 2

disease_progression

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin receptor

disease_progression

RGD

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

TIMP metallopeptidase inhibitor 3

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

RGD

NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839

CIC-rearranged sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 1, member C2

ClinVar Annotator: match by term: CIC-rearranged sarcoma

PMID:21802064 PMID:25741868

NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: CIC-DUX Sarcoma

PMID:25741868 PMID:28492532

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

G

upstream transcription factor family member 3

ClinVar Annotator: match by term: CIC-rearranged sarcoma

NCBI chr11:56,470,738...56,529,736
Ensembl chr11:56,476,122...56,529,884

clear cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613

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 chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577

G

tumor protein p53

ClinVar Annotator: match by term: Infantile fibrosarcoma

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

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

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

RGD

PMID:12641779 PMID:22153773

RGD:2292195, RGD:5688300

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

platelet derived growth factor subunit B

DNA:gene fusion:exon
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:25741868 PMID:28492532 PMID:12641779

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

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 chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561

desmoplastic small round cell tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 17

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

NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788

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

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

myogenic differentiation 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:26619011 PMID:26822237

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

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

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

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

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

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

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975

Embryonal Rhabdomyosarcoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1 ribonuclease III

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2

OMIM
CTD
ClinVar

PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24728327 More...

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

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

RGD

NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480

G

catenin beta 1

RGD

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

G

fibroblast growth factor 8

testicular germ cell neoplasms

RGD

NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359

G

spalt-like transcription factor 4

protein:increased expression:testis, nucleus (human)

RGD

NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

Wnt family member 2B

RGD

NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308

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

RGD

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

epithelioid sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

protein:decreased expression:epithelial cell:

RGD

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

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

G

CD99 molecule (Xg blood group)

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

NCBI chr20:54,418,239...54,422,882

G

cyclin-dependent kinase 4

ClinVar Annotator: match by term: Ewing sarcoma

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

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

G

CDKN1A interacting zinc finger protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762

G

early growth response 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562

G

EWS RNA-binding protein 1

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

ClinVar
CTD
OMIM
RGD

PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532 More...

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

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

PMID:11772151 PMID:16646077 PMID:26214589

NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433

G

lysine demethylase 3A

mRNA:increased expression:bone marrow (human)

RGD

NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073

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

G

tetraspanin 31

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388

Experimental Sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkylglycerone phosphate synthase

RGD

NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:60,747,323...60,845,830

G

albumin

mRNA,protein:decreased expression:liver,serum:

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

interferon gamma

treatment

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

KRAS proto-oncogene, GTPase

A to T transversion; Gln to His substitution

RGD

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

G

NRAS proto-oncogene, GTPase

DNA:transversion:exon p.Q61L (human)

RGD

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

G

solute carrier family 6 member 14

mRNA, protein:increased expression:brush border epithelial cell

RGD

NCBI chr X:112,314,643...112,375,412
Ensembl chr X:112,314,691...112,375,096

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

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

CTD Direct Evidence: marker/mechanism

NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733

G

TATA-box binding protein associated factor 15

ClinVar Annotator: match by term: TAF15-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:28492532

NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,272,969...68,304,949

fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 42

RGD

NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111

G

discoidin domain receptor tyrosine kinase 2

ameliorates

DNA:deletion:exons:

RGD

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

early growth response 1

human tumor line expressing mouse gene in mouse model

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

ERCC excision repair 6, chromatin remodeling factor

susceptibility

RGD

NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

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

G

serpin family E member 1

severity

RGD

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

G

telomerase reverse transcriptase

treatment

RGD

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

G

TNF receptor superfamily member 1A

human gene in mouse model

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891

Hydatidiform Mole

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein hormones, alpha polypeptide

protein:increased expression:serum

RGD

NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

RGD

NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079

G

KH domain containing 3, subcortical maternal complex member

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

NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248

G

mutL homolog 1

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

RGD

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

RGD

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

Hydatidiform Mole, Invasive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 2

protein:decreased expression:mononuclear cytotrophoblast cell

RGD

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

Hydatidiform Mole, Recurrent, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1

PMID:19066229 PMID:21507883 PMID:24105752

NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1

PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More...

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

Hydatidiform Mole, Recurrent, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KH domain containing 3, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2

PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More...

NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248

Hydatidiform Mole, Recurrent, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

meiotic double-stranded break formation protein 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3

PMID:25741868 PMID:30388401

NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511

Hydatidiform Mole, Recurrent, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TOP6B like initiator of meiotic double strand breaks

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4

PMID:25741868 PMID:30388401

NCBI chr 1:201,902,564...201,989,945

Kaposi's sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain PHD finger transcription factor

ClinVar Annotator: match by term: Kaposi sarcoma, susceptibility to

PMID:28492532 PMID:38380509

NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769

G

fibroblast growth factor receptor 2

mRNA:increased expression:zone of skin (human)

RGD

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

interleukin 6

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kaposi's sarcoma

CTD
OMIM
ClinVar

PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More...

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

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

treatment

RGD

NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043

G

tumor protein p53

GAD

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

Kaposiform Hemangioendothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 2

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Kaposiform hemangioendothelioma

PMID:25741868 PMID:27476652

NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423

leiomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-Mullerian hormone receptor type 2

protein:increased expression:myometrium

RGD

NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258

G

cyclin-dependent kinase inhibitor 2A

associated with Myometrial Neoplasms;protein:increased expression:myometrium

RGD

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

G

checkpoint kinase 2

ClinVar Annotator: match by term: Leiomyosarcoma

PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More...

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

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

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

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

Fms related receptor tyrosine kinase 1

severity

Uterine

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752

G

KIT proto-oncogene receptor tyrosine kinase

Uterine

RGD

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

G

mediator complex subunit 12

DNA:missense mutations:cds:

RGD

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

telomerase reverse transcriptase

mRNA:increased expression:myometrium

RGD

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

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144

G

5'-3' exoribonuclease 2

mRNA:increased expression:uterus (human)

RGD

NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306

liposarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase 4

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:20601955 PMID:23569312

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

G

fatty acid synthase

CTD Direct Evidence: therapeutic

NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261

G

Fus RNA binding protein

RGD

NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414

G

interleukin 22

NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186

G

microRNA 155

disease_progression

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

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

G

YEATS domain containing 4

CTD Direct Evidence: therapeutic

NCBI chr 7:52,858,313...52,865,454
Ensembl chr 7:52,858,305...52,865,635

localized osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin G1

treatment

human cells in mouse model

RGD

NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641

malignant fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PPARG coactivator 1 alpha

treatment

human cell line in mouse model

RGD

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

RecQ like helicase 4

ClinVar Annotator: match by term: Malignant fibrous histiocytoma

PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778

NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619

meninges sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

RGD

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

mesenchymal chondrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

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

G

CD99 molecule (Xg blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr20:54,418,239...54,422,882

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

marker of proliferation Ki-67

CTD Direct Evidence: marker/mechanism

NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

myeloid sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 2

associated with Leukemia, Myeloid, Acute;protein:increased expression:blood, leukocyte

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

KRAS proto-oncogene, GTPase

associated with Leukemia, Myeloid, Acute;DNA:missense mutation:exon:p.G12C (human)

RGD

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

G

platelet derived growth factor receptor alpha

treatment

RGD

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

myxoid liposarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA-damage inducible transcript 3

DNA:translocation: ;t(12;16)(q13;p11)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:1283316 PMID:7503811 PMID:8510758 PMID:1283316

NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201

G

Fus RNA binding protein

CTD Direct Evidence: marker/mechanism

PMID:7503811 PMID:8510758

NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414

neurofibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

RGD

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

G

MAX interactor 1, dimerization protein

ClinVar Annotator: match by term: Neurofibrosarcoma

PMID:10470286 PMID:10470286

NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

vascular endothelial growth factor A

protein:increased expression:peripheral nerve

RGD

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

oculoectodermal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

clusterin associated protein 1

ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome

NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome

PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More...

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

G

NLR family, pyrin domain containing 5

ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome

PMID:20738330 PMID:26323243

NCBI chr 1:67,778,037...67,810,941
Ensembl chr 1:67,777,948...68,023,736

osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 12

mRNA,protein:decreased expression:osteoblast:

RGD

NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Osteosarcoma, somatic

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

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

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Osteosarcoma, somatic

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

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

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

G

BRCA2, DNA repair associated

DNA:nonsense mutation

RGD

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

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

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

G

Cbl proto-oncogene

protein:decreased expression:bone

RGD

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

cyclin B3

CTD Direct Evidence: marker/mechanism

NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885

G

cell division cycle 5-like

DNA:amplification:cds (human)

RGD

NCBI chr 9:15,564,949...15,603,453
Ensembl chr 9:15,564,767...15,603,450

G

cyclin-dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Osteoblastic osteosarcoma

PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More...

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

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteosarcoma, somatic

CTD
ClinVar
OMIM

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

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

G

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

DNA:deletion (rat)

RGD

NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897

G

C-X-C motif chemokine receptor 4

ameliorates

human cells in mouse model

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

cytochrome P450, family 3, subfamily a, polypeptide 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008

G

discoidin domain receptor tyrosine kinase 1

severity

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

RGD

PMID:29039472 PMID:29039472

RGD:151347601, RGD:151347601

NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468

G

dihydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713

G

E2F transcription factor 1

severity

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

RGD

PMID:29039472 PMID:29039472

RGD:151347601, RGD:151347601

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

G

EGF containing fibulin extracellular matrix protein 2

exacerbates

human EFEMP2 knockdown cell line in a mouse model

RGD

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

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

G

early growth response 1

mRNA:decreased expression:tumor (human)

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

eukaryotic translation initiation factor 2 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225

G

ERCC excision repair 1, endonuclease non-catalytic subunit

severity

DNA:silent mutation:cds:p.N118N (human)

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

estrogen related receptor, alpha

CTD Direct Evidence: marker/mechanism

PMID:24967384 PMID:34524571

NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:14767549 PMID:26265454

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

folate receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667

G

glutamate metabotropic receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,484,172...5,572,821
Ensembl chr20:5,481,124...5,572,821

G

glutathione S-transferase mu 3

RGD

NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475

G

glutathione S-transferase, mu 5

NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

histone deacetylase 6

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441

G

hydroxysteroid (17-beta) dehydrogenase 10

treatment

RGD

NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488

G

interleukin 3

RGD

NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

potassium voltage-gated channel subfamily H member 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477

G

leucine zipper and CTNNBIP1 domain containing

RGD

NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

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

G

microRNA 106b

CTD Direct Evidence: marker/mechanism

NCBI chr12:17,043,344...17,043,425
Ensembl chr12:17,043,344...17,043,425

G

microRNA 130b

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244

G

microRNA 328

CTD Direct Evidence: marker/mechanism

NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849

G

microRNA 494

severity
ameliorates

RGD

PMID:35117781 PMID:35117781

RGD:156430319, RGD:156430319

NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793

G

microRNA 93

CTD Direct Evidence: marker/mechanism

NCBI chr12:17,043,135...17,043,221
Ensembl chr12:17,043,135...17,043,221

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

disease_progression

RGD

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

mutS homolog 6

disease_progression

RGD

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

G

macrophage stimulating 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455

G

methylenetetrahydrofolate reductase

treatment

DNA:transition:cds:g.677C>T (human)

RGD

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

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:34508303

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

G

nuclear receptor subfamily 1, group I, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658

G

pleckstrin homology-like domain, family A, member 2

CTD Direct Evidence: therapeutic

NCBI chr 1:198,696,897...198,699,292
Ensembl chr 1:198,696,897...198,697,836

G

PRAME like, X-linked 1

severity

mRNA:increased expression:muscle tissue (human)

RGD

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

G

peroxiredoxin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194

G

polypyrimidine tract binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397

G

parathyroid hormone

human protein in rat model

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

protein tyrosine phosphatase, receptor type, B

disease_progression

mRNA:decreased expression:bone (human)

RGD

NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Osteosarcoma, somatic
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 More...

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

G

replication factor C subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370

G

regulator of G-protein signaling 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:56,018,546...56,022,889
Ensembl chr13:56,018,554...56,022,984

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:25307878

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

G

serpin family F member 1

treatment

human gene in rat model
human protein in a mouse model

RGD

PMID:17479108 PMID:17458711

RGD:8633656, RGD:8655561

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

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

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

G

TATA-box binding protein associated factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,272,969...68,304,949

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937

G

tumor protein p53

CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Osteosarcoma, somatic
OMIM:259500

CTD
OMIM
ClinVar
MouseDO
RGD

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

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

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

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

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

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

G

zinc finger, MIZ-type containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,027,083...1,232,616
Ensembl chr16:1,027,325...1,232,597

G

zw10 kinetochore protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:49,396,541...49,424,743
Ensembl chr 8:49,396,545...49,421,805

peripheral osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RecQ like helicase 4

ClinVar Annotator: match by term: High grade surface osteosarcoma

PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More...

NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619

Phyllodes Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 1A

severity

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

catenin beta 1

protein:increased expression:nucleus

RGD

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

G

epidermal growth factor receptor

disease_progression

protein:increased expression:tumor

RGD

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

G

erb-b2 receptor tyrosine kinase 3

disease_progression

RGD

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

erb-b2 receptor tyrosine kinase 4

disease_progression

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

hypoxia inducible factor 1 subunit alpha

severity

protein:increased expression:breast (human)

RGD

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

G

KIT proto-oncogene receptor tyrosine kinase

severity

RGD

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

G

lysine methyltransferase 2D

CTD Direct Evidence: marker/mechanism

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

G

mediator complex subunit 12

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

G

nitric oxide synthase 3

protein:increased expression:breast

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

proliferating cell nuclear antigen

disease_progression

RGD

NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995

G

retinoic acid receptor, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142

G

RB transcriptional corepressor 1

severity

protein:increased expression:breast

RGD

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

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

transferrin receptor

protein:increased expression:myoepithelial cell

RGD

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

G

tumor protein p53

disease_progression

RGD

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

placental site trophoblastic tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glypican 3

protein:increased expression:placenta, trophoblast cells (human)

RGD

NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798

prostate malignant phyllodes tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kallikrein 1-related peptidase C10

CTD Direct Evidence: marker/mechanism

NCBI chr 1:94,402,993...94,407,052
Ensembl chr 1:94,402,993...94,407,052

rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

G

angiopoietin 2

protein:increased expression:blood vessel (rat)

RGD

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

BRCA1, DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:12920083 PMID:16287141 PMID:20104584 PMID:21232165 PMID:22923021 More...

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:8589730 PMID:8988179 PMID:10188893 PMID:10790213 PMID:11802209 More...

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

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

RGD

NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More...

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

cyclin-dependent kinase inhibitor 2A

DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle

RGD

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

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099

G

dicer 1 ribonuclease III

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More...

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

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:19809159 PMID:24124571

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

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

G

insulin-like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

mutS homolog 2

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 More...

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

mutS homolog 6

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 More...

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

G

neurofibromin 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:9536098 More...

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

G

PMS1 homolog 2, mismatch repair system component

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

PMID:2440087 PMID:7629132 PMID:9756907 PMID:10037723 PMID:15077197 More...

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

G

patched 1

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

CTD
ClinVar
RGD

PMID:19155313 PMID:33372952 PMID:19321799

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

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 More...

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

G

prothymosin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 More...

NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 More...

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

G

solute carrier family 22, member 18

ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic

PMID:9520460 PMID:25741868

NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975

G

translocase of inner mitochondrial membrane 10

CTD Direct Evidence: marker/mechanism

NCBI chr 3:69,908,397...69,911,943
Ensembl chr 3:69,908,456...69,911,940

G

tumor protein p53

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 More...

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

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

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

ring dermoid of cornea

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeodomain 2

ClinVar Annotator: match by term: Ring dermoid of cornea
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:15378534 PMID:15591271 PMID:22569110 PMID:25741868 PMID:26220699 More...

NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293

Sarcoma, Yoshida

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dihydropyrimidine dehydrogenase

treatment

RGD

NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982

skeletal muscle cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microRNA 222

RNA:increased expression: triceps surae muscle

RGD

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

spindle cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by term: Spindle cell sarcoma

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

synovial sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2, apoptosis regulator

CTD Direct Evidence: therapeutic

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

G

SHC binding and spindle associated 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:84,672,277...84,703,843
Ensembl chr16:84,672,321...84,703,844

G

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

RGD

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

G

SS18 subunit of BAF chromatin remodeling complex

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9428816 PMID:27572315 PMID:7951320

NCBI chr18:5,773,042...5,835,696
Ensembl chr18:5,773,042...5,835,333

G

SSX family member 1

CTD Direct Evidence: marker/mechanism

PMID:9428816 PMID:27572315

NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

teratocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-fetoprotein

protein:increased expression:serum

RGD

NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480

G

DAB adaptor protein 2

ClinVar Annotator: match by term: Teratocarcinoma

NCBI chr 2:55,514,692...55,567,476
Ensembl chr 2:55,514,700...55,567,476

G

DND microRNA-mediated repression inhibitor 1

compared to WKY

RGD

NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316

G

DND microRNA-mediated repression inhibitor 1, ter mutant

compared to WKY

RGD

G

H19 imprinted maternally expressed transcript

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

teratoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALF transcription elongation factor 1

ClinVar Annotator: match by term: Teratoma

NCBI chr14:5,861,188...6,024,196
Ensembl chr14:5,863,961...6,024,729

G

Rho guanine nucleotide exchange factor 10 like

ClinVar Annotator: match by term: Teratoma

NCBI chr 5:152,792,247...152,935,255
Ensembl chr 5:152,792,252...152,919,538

G

BCL2 associated X, apoptosis regulator

disease_progression

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Teratoma

NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502

G

cAMP responsive element binding protein 3-like 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456

G

CREB binding protein

ClinVar Annotator: match by term: Teratoma

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

G

cripto, EGF-CFC family member

treatment

RGD

NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308

G

catenin beta 1

RGD

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

G

DEAD-box helicase 6

ClinVar Annotator: match by term: Teratoma

NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405

G

endothelial PAS domain protein 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228

G

erb-b2 receptor tyrosine kinase 4

ClinVar Annotator: match by term: Teratoma

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

ethanolamine kinase 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 4:176,126,056...176,170,325
Ensembl chr 4:176,126,180...176,193,770

G

Fms related receptor tyrosine kinase 4

ClinVar Annotator: match by term: Teratoma

NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770

G

H19 imprinted maternally expressed transcript

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Teratoma

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

IKAROS family zinc finger 1

ClinVar Annotator: match by term: Teratoma

NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416

G

kinase insert domain receptor

ClinVar Annotator: match by term: Teratoma

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

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Teratoma

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

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640

G

Nanog homeobox

severity

mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell

RGD

NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116

G

NME/NM23 nucleoside diphosphate kinase 1

DNA:deletion

RGD

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

G

NME/NM23 nucleoside diphosphate kinase 2

DNA:deletion

RGD

NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538

G

poly(A) binding protein, cytoplasmic 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744

G

phosphoglucomutase 1

RGD

NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728

G

phosphoglucomutase 3

RGD

NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022

G

DNA polymerase theta

ClinVar Annotator: match by term: Teratoma

NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878

G

protein tyrosine phosphatase, receptor type, B

RGD

NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748

G

rabaptin, RAB GTPase binding effector protein 1

ClinVar Annotator: match by term: Teratoma

NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973

G

SET domain containing 2, histone lysine methyltransferase

ClinVar Annotator: match by term: Teratoma

NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

solute carrier family 45, member 3

ClinVar Annotator: match by term: Teratoma

NCBI chr13:43,407,293...43,427,588
Ensembl chr13:43,407,293...43,427,588

G

staphylococcal nuclease and tudor domain containing 1

ClinVar Annotator: match by term: Teratoma

NCBI chr 4:57,095,205...57,494,501
Ensembl chr 4:57,095,208...57,530,843

G

SSX family member 1

ClinVar Annotator: match by term: Teratoma

NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720

G

SUZ12 polycomb repressive complex 2 subunit

ClinVar Annotator: match by term: Teratoma

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

G

telomerase reverse transcriptase

mRNA:decreased expression

RGD

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

G

transformation/transcription domain-associated protein

ClinVar Annotator: match by term: Teratoma

NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674

G

thymidine phosphorylase

protein:increased expression:testis

RGD

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

G

Wnt family member 2B

RGD

NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308

trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiogenin

protein:increased expression:serum

RGD

NCBI chr15:24,312,711...24,323,361

G

KiSS-1 metastasis-suppressor

Gestational Trophoblastic Neoplasms, MeSH:D031901

RGD

NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612

uterine carcinosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 2A

disease_progression

RGD

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

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

ClinVar Annotator: match by term: Uterine carcinosarcoma

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:25741868 PMID:26619011

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More...

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

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

G

KIT proto-oncogene receptor tyrosine kinase

Uterine Carcinosarcoma

RGD

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

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

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

ClinVar Annotator: match by term: Uterine carcinosarcoma

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

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

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phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:19962457 PMID:25157968 PMID:26619011

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

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More...

NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939

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protein phosphatase 2 scaffold subunit A alpha

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 More...

NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129

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prominin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527

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phosphatase and tensin homolog

ClinVar Annotator: match by term: Uterine carcinosarcoma

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

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

G

tumor protein p53

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:960674 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More...

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

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U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011

NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832

Term paths to the root

Path 1
Term	Annotations
disease	19055
disease of cellular proliferation	7785
cancer	5632
cell type cancer	3842
sarcoma	287
Ewing sarcoma +	11
Experimental Sarcoma +	9
Kaposi's sarcoma +	8
Mesodermal Mixed Tumor	0
Phyllodes Tumor +	18
Plexosarcoma	0
adenosarcoma +	0
alveolar soft part sarcoma	1
angiosarcoma +	22
anus sarcoma +	0
bile duct sarcoma +	0
bladder sarcoma	0
bone sarcoma +	86
breast sarcoma +	3
carcinosarcoma +	18
central nervous system sarcoma +	2
clear cell sarcoma +	1
colon sarcoma +	0
dendritic cell sarcoma +	1
endometrial stromal tumor +	1
epithelioid sarcoma +	1
esophagus sarcoma +	0
fibrosarcoma +	16
gallbladder sarcoma +	0
germ cell and embryonal cancer +	73
heart sarcoma +	0
kidney sarcoma +	0
larynx sarcoma +	0
leiomyosarcoma +	16
liposarcoma +	8
liver sarcoma +	0
lung sarcoma +	0
lymphangiosarcoma +	0
malignant fibrous histiocytoma +	3
malignant hemangioma +	0
mast-cell sarcoma	0
mediastinum sarcoma +	0
muscle cancer +	54
myeloid sarcoma +	3
myxofibrosarcoma	0
myxosarcoma	0
orbit sarcoma +	0
ovary sarcoma +	0
pancreas sarcoma	0
paranasal sinus sarcoma	0
penis sarcoma	0
prostate sarcoma +	0
rectum sarcoma +	0
sarcomatosis +	0
skin sarcoma +	0
small cell sarcoma +	4
small intestinal sarcoma +	0
spindle cell sarcoma +	1
synovial sarcoma +	6
testis sarcoma +	0
thyroid sarcoma +	0
trachea sarcoma	0
undifferentiated sarcoma +	3
uterine corpus sarcoma +	0
vagina sarcoma +	0
vulvar sarcoma +	0

paths to the root