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:	Soft Tissue Neoplasms	go back to main search page
Accession:	DOID:9007429	browse the term
Definition:	Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc.
Synonyms:	exact_synonym:	Soft Tissue Neoplasm
	primary_id:	MESH:D012983
	xref:	EFO:1000541

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Rat (218) Mouse (209) Human (3237) Chinchilla (183) Bonobo (187) Dog (189) Squirrel (183) Pig (186) Green Monkey (185) Naked Mole-rat (184) All
Genes (186)

Soft Tissue Neoplasms

term browser

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Object Name

Qualifiers

Evidence

Notes

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PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 apoptosis regulator

CTD Direct Evidence: therapeutic

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753

G

small nuclear ribonucleoprotein D3 polypeptide

severity

mRNA, protein:increased expression:multiple (human)

NCBI chr14:49,585,177...49,598,015

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

PMID:16767912 PMID:17203757

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

Abdominal Fibromatosis

term browser

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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 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

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 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

cellular communication network factor 2

mRNA:increased expression:tumor (human)

NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691

G

serpin family E member 1

susceptibility

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

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

alveolar rhabdomyosarcoma

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PubMed Reference(s)

RGD Reference(s)

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G

forkhead box O1

ClinVar Annotator: match by term: FOXO1-related condition

PMID:25741868 PMID:28492532

NCBI chr11:15,317,222...15,410,059
Ensembl chr11:15,317,124...15,410,473

G

paired box 3

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma

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

NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011

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 6:77,160,827...77,268,626
Ensembl chr 6:77,161,097...77,267,415

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990

G

WW domain containing transcription regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:89,742,980...89,889,547
Ensembl chr13:89,742,886...89,889,187

alveolar soft part sarcoma

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PubMed Reference(s)

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G

ASPSCR1 tether for SLC2A4, UBX domain containing

NCBI chr12:995,688...1,021,932
Ensembl chr12:995,772...1,021,937

ameloblastoma

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G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898

Angiomatoid Fibrous Histiocytoma

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

cAMP responsive element binding protein 1

NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728

bone giant cell tumor

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PubMed Reference(s)

RGD Reference(s)

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G

H3.3 histone A

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,923,077...13,948,484

capillary hemangioma

term browser

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RGD Reference(s)

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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 chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337

G

cellular communication network factor 1

disease_progression

mRNA:increased expression:skin (human)

NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Capillary hemangioma

NCBI chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,879...108,450,990

Carney Triad

term browser

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PubMed Reference(s)

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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 chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524

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 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378

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 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118

cerebellar angioblastoma

term browser

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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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654

chondroblastoma

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G

H3.3 histone B

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,632,326...5,634,977
Ensembl chr12:5,632,365...5,634,726

CLOVES syndrome

term browser

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G

G protein subunit alpha 11

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

PMID:25741868 PMID:27476652

NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: CLOVES syndrome

PMID:25741868 PMID:34040190

NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609

corpus callosum lipoma

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PubMed Reference(s)

RGD Reference(s)

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G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Corpus callosum lipoma

NCBI chr 9:44,567,573...44,596,549
Ensembl chr 9:44,567,577...44,596,484

desmoid tumor

term browser

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PubMed Reference(s)

RGD Reference(s)

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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 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid tumor

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

NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311

diaphyseal medullary stenosis with malignant fibrous histiocytoma

term browser

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PubMed Reference(s)

RGD Reference(s)

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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 1:200,882,954...200,934,389
Ensembl chr 1:200,882,956...200,934,445

embryonal rhabdomyosarcoma

term browser

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:35,768,013...35,891,013
Ensembl chr X:35,768,017...35,814,833

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:27,028,223...29,650,728
Ensembl chr X:27,028,231...28,383,840

G

myogenic differentiation 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

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

NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,226...32,925,606

Embryonal Rhabdomyosarcoma 1

term browser

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

solute carrier family 22 member 18

NCBI chr 2:2,032,370...2,055,756
Ensembl chr 2:2,028,396...2,055,750

Embryonal Rhabdomyosarcoma 2

term browser

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

dicer 1, ribonuclease III

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

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

NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224

Epithelioid Leiomyoma

term browser

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Source

PubMed Reference(s)

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G

collagen type IV alpha 5 chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:88,958,837...89,183,306
Ensembl chr X:88,958,849...89,183,372

G

collagen type IV alpha 6 chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:88,634,925...88,750,938
Ensembl chr X:88,634,930...88,957,416

fibroma

term browser

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Object Name

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Source

PubMed Reference(s)

RGD Reference(s)

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G

ANTXR cell adhesion molecule 2

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:12973667 PMID:14508707

NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333

G

BRF1 RNA polymerase III transcription initiation factor subunit

G

glutamate metabotropic receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:19,183,221...19,572,853
Ensembl chr 1:19,183,218...19,572,853

fibrous histiocytoma

term browser

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Object Name

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Source

PubMed Reference(s)

RGD Reference(s)

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multifunctional ROCO family signaling regulator 1

NCBI chr15:56,200,455...56,296,151
Ensembl chr15:56,200,455...56,295,064

hemangioblastoma

term browser

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PubMed Reference(s)

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G

C-X-C motif chemokine receptor 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232

G

delta like canonical Notch ligand 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411

G

hes related family bHLH transcription factor with YRPW motif 1

mRNA,protein:increased expression:temporal lobe :

NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335

G

notch receptor 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281

hereditary desmoid disease

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative

PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 More...

NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation

PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More...

NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311

Hereditary Leiomyomatosis and Renal Cell Cancer

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CHM like Rab escort protein

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr10:11,835,472...11,845,833
Ensembl chr10:11,835,582...11,845,804

G

cholinergic receptor muscarinic 3

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr14:51,818,625...52,363,662
Ensembl chr14:51,828,231...51,830,003

G

exonuclease 1

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr10:15,317,555...15,360,593
Ensembl chr10:15,317,581...15,359,839

G

fumarate hydratase

ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer | ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous

PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More...

NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,824

G

formin 2

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

G

gremlin 2, DAN family BMP antagonist

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr10:11,884,198...11,904,249
Ensembl chr10:11,885,280...11,885,780

G

kynurenine 3-monooxygenase

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr10:12,442,877...12,489,417
Ensembl chr10:12,442,645...12,490,409

G

microtubule associated protein 1 light chain 3 gamma

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr10:15,371,182...15,379,067
Ensembl chr10:15,372,879...15,379,172

G

phospholipase D family member 5

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr10:15,420,600...15,723,890
Ensembl chr10:15,420,608...15,723,479

G

regulator of G protein signaling 7

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr10:11,950,897...12,322,382
Ensembl chr10:11,950,901...12,322,359

G

ryanodine receptor 2

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063

G

WD repeat domain 64

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr10:11,745,830...11,835,287
Ensembl chr10:11,746,565...11,825,546

G

zona pellucida glycoprotein 4

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr14:53,577,138...53,584,544
Ensembl chr14:53,577,135...53,584,546

histiocytoma

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

killer cell lectin like receptor K1

treatment

NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192

Hyperparathyroidism 2

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

beta-1,3-galactosyltransferase 2

ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

NCBI chr10:613,464...623,587
Ensembl chr10:613,608...624,131

G

cell division cycle 73

ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More...

NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432

Infantile Capillary Hemangioma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

ANTXR cell adhesion molecule 1

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:18931684 PMID:25741868 PMID:28492532

NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,747...73,398,379

G

cyclin H

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY

PMID:25741868 PMID:28492532

NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519

G

fms related receptor tyrosine kinase 4

ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY

PMID:11807987 PMID:25741868 PMID:28492532

NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126

G

kinase insert domain receptor

susceptibility

ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition

PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More...

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

myosin heavy chain 9

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450

G

solute carrier family 2 member 1

NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867

G

vascular endothelial growth factor A

disease_progression

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

infantile myofibromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile

PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More...

NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647

Infantile Myofibromatosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

ClinVar Annotator: match by term: Myofibromatosis, infantile, 1

NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Myofibromatosis, infantile, 1

PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 More...

NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647

Infantile Myofibromatosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

ClinVar Annotator: match by term: Myofibromatosis, infantile, 2

PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More...

NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344

leiomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

androgen receptor

NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677

G

BCL2 antagonist/killer 1

associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium

NCBI chr 7:29,808,849...29,815,345
Ensembl chr 7:29,808,849...29,815,318

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147

G

BCL2 apoptosis regulator

treatment

protein:increased expression:myometrium

PMID:16962107 PMID:23789224

RGD:10054112 RGD:1643479

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

BCL2 like 1

associated with Carcinoma, Renal Cell;protein:increased expression:myometrium

NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694

G

caveolin 1

protein:increased expression:uterus

NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465

G

cyclin G1

mRNA, protein:increased expression:uterus, myometrium

NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738

G

catechol-O-methyltransferase

susceptibility

protein:increased expression:myometrium
associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M

PMID:16443508 PMID:16730007

RGD:2289717 RGD:2289780

NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998

G

casein kinase 2 beta

NCBI chr 7:23,781,194...23,787,914
Ensembl chr 7:23,780,210...23,792,502
Ensembl chr 7:23,780,210...23,792,502

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

PMID:18701604 PMID:31468104

NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

Fas ligand

protein:increased expression:myometrium

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

fibroblast growth factor 1

disease_progression

protein:increased expression:uterus

NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,392...144,241,323

G

fibroblast growth factor 2

disease_progression

protein:increased expression:uterus

NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916

G

fibroblast growth factor 7

NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750

G

frizzled class receptor 2

mRNA, protein:increased expression:myometrium

NCBI chr12:18,740,417...18,742,301
Ensembl chr12:18,740,653...18,742,420

G

G protein-coupled estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:711,427...715,982
Ensembl chr 3:712,160...715,980

G

high mobility group AT-hook 2

uterine leiomyoma, OMIM:150699; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3

NCBI chr 5:30,188,521...30,329,635

G

heterogeneous nuclear ribonucleoprotein M

mRNA:increased expression:uterine myometrium (human)

NCBI chr 2:70,813,745...70,858,903
Ensembl chr 2:70,813,745...70,862,586

G

insulin like growth factor binding protein 6

uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray

NCBI chr 5:18,352,884...18,357,225
Ensembl chr 5:18,352,400...18,357,225

G

inhibin subunit beta A

CTD Direct Evidence: marker/mechanism

NCBI chr12:53,115,379...53,117,128
NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967

G

lysine acetyltransferase 6B

DNA:translocation:intron:IVS3 (human)

NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673

G

kinesin family member 5C

mRNA:increased expression:myometrium (human)

NCBI chr15:3,190,341...3,361,470
Ensembl chr15:3,190,343...3,361,410

G

leucyl and cystinyl aminopeptidase

disease_progression

associated with Uterine Neoplasms;protein:increased expression:serum

NCBI chr 2:103,568,366...103,659,589
Ensembl chr 2:103,567,602...103,661,070

G

marker of proliferation Ki-67

NCBI chr14:137,266,622...137,296,312

G

matrix metallopeptidase 2

protein:increased expression:myometrium

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

MYC proto-oncogene, bHLH transcription factor

treatment

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

nitric oxide synthase 3

protein:increased expression:smooth muscle cell

NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943

G

poly(ADP-ribose) polymerase 1

treatment

NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196

G

proliferating cell nuclear antigen

treatment

protein:increased expression:myometrium

PMID:18000229 PMID:21896544

RGD:10413890 RGD:2292498

NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744

G

Purkinje cell protein 4

mRNA,protein:increased expression:uterine myometrium:

NCBI chr13:203,412,479...203,479,216
Ensembl chr13:203,412,479...203,479,209

G

platelet derived growth factor subunit A

protein:increased expression:myometrium

NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712

G

platelet derived growth factor subunit B

protein:increased expression:myometrium

Ensembl chr 5:8,986,462...9,007,435

G

progesterone receptor

no_association

NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221

G

phosphatase and tensin homolog

protein:decreased expression:myometrium
protein:increased phosphorylation:myometrium

PMID:17097286 PMID:18000229

RGD:2292498 RGD:2292508

NCBI chr14:99,929,590...100,021,619

G

prostaglandin E receptor 3

mRNA:increased expression:uterine myometrium (human)

NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286

G

protein tyrosine kinase 2

NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054

G

secreted frizzled related protein 1

Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs
CTD Direct Evidence: marker/mechanism

NCBI chr17:10,436,414...10,489,773
Ensembl chr17:10,436,426...10,489,748

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449

G

transforming growth factor beta receptor 1

NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

PMID:15937110 PMID:21145542

NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism
Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs

NCBI chr 5:68,627,158...68,731,938
Ensembl chr 5:68,627,185...68,732,265

G

Wnt family member 7A

Uterine Leiomyoma; mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria

NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,454

G

X-ray repair cross complementing 1

susceptibility

DNA:polymorphism: :p.R399Q

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

leiomyoma cutis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fumarate hydratase

ClinVar Annotator: match by term: Multiple cutaneous leiomyomas

PMID:2314594 PMID:9300800 PMID:9635293 PMID:11865300 PMID:12761039 More...

NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,824

leiomyomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD44 molecule

NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153

leiomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-Mullerian hormone receptor type 2

protein:increased expression:myometrium

NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848

G

cyclin dependent kinase inhibitor 2A

associated with Myometrial Neoplasms;protein:increased expression:myometrium

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

checkpoint kinase 2

ClinVar Annotator: match by term: Leiomyosarcoma

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

NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:27,028,223...29,650,728
Ensembl chr X:27,028,231...28,383,840

G

fms related receptor tyrosine kinase 1

severity

Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008)

NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:30,320,090...30,329,413
Ensembl chr 7:30,320,410...30,329,408

G

KIT proto-oncogene, receptor tyrosine kinase

Uterine; protein:increased expression:tumor:10/14 tumors (71%)

NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

G

mediator complex subunit 12

DNA:missense mutations:cds:

NCBI chr X:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

telomerase reverse transcriptase

mRNA:increased expression:myometrium

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572

G

5'-3' exoribonuclease 2

mRNA:increased expression:uterus (human)

NCBI chr17:29,107,641...29,193,500
Ensembl chr17:29,107,667...29,193,479

Lipoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PLAG1 zinc finger

CTD Direct Evidence: marker/mechanism

NCBI chr 4:75,646,585...75,696,718
Ensembl chr 4:75,646,584...75,694,117

lipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

high mobility group AT-hook 2

DNA:multiple chromosomal rearrangements

NCBI chr 5:30,188,521...30,329,635

G

menin 1

ClinVar Annotator: match by term: Lipoma, somatic

PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 More...

NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr14:99,929,590...100,021,619

malignant fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multifunctional ROCO family signaling regulator 1

ClinVar Annotator: match by term: MFHAS1-related condition

PMID:25741868 PMID:28492532

NCBI chr15:56,200,455...56,296,151
Ensembl chr15:56,200,455...56,295,064

G

PPARG coactivator 1 alpha

treatment

human cell line in mouse model

NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992

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 4:287,206...293,629
Ensembl chr 4:287,214...293,913

Malignant Granular Cell Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain containing 7

ClinVar Annotator: match by term: malignant granular cell tumor

NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,663

Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal

PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 More...

NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441

Nasopalpebral Lipoma Coloboma Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger DBF-type containing 2

ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome

PMID:23636874 PMID:27139419

NCBI chr15:109,563,445...109,593,858
Ensembl chr15:109,578,473...109,589,813

ossifying fibroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 73

ClinVar Annotator: match by term: Ossifying fibroma of the jaw

NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432

pulmonary venoocclusive disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis

PMID:18626305 PMID:24292273

NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis

PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More...

NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,466...131,355,226

Rhabdomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418

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 3:109,411,146...110,105,755

G

angiopoietin 2

protein:increased expression:blood vessel (rat)

NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:12920083 PMID:16287141 PMID:19370767 PMID:20104584 PMID:21232165 More...

NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834

G

cyclin dependent kinase inhibitor 2A

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

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

insulin like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:1,469,183...1,496,417

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 2:303,836...323,701
Ensembl chr 2:304,430...323,699

G

mutS homolog 2

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585

G

mutS homolog 6

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238

G

neurofibromin 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628

G

patched 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr14:99,929,590...100,021,619

G

prothymosin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr15:132,353,763...132,361,442
Ensembl chr15:132,355,655...132,361,435

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 chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118

G

solute carrier family 22 member 18

ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic

NCBI chr 2:2,032,370...2,055,756
Ensembl chr 2:2,028,396...2,055,750

G

translocase of inner mitochondrial membrane 10

CTD Direct Evidence: marker/mechanism

NCBI chr 2:13,393,225...13,396,241
Ensembl chr 2:13,393,282...13,396,439

G

tumor protein p53

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

skeletal muscle cancer

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

microRNA mir-222

RNA:increased expression: triceps surae muscle

NCBI chr X:40,571,808...40,571,887
Ensembl chr X:40,571,808...40,571,887

smooth muscle tumor

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335

Solitary Fibrous Tumors

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

NGFI-A binding protein 2

CTD Direct Evidence: marker/mechanism

PMID:23313952 PMID:23313954

NCBI chr 5:22,400,275...22,406,424
Ensembl chr 5:22,400,277...22,406,419

G

signal transducer and activator of transcription 6

CTD Direct Evidence: marker/mechanism

PMID:23313952 PMID:23313954

NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989

subserous uterine fibroid

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr 5:8,052,434...8,311,811
Ensembl chr 5:8,063,985...8,311,429

uterine fibroid

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

adenosine deaminase

susceptibility

DNA:polymorphisms: :

NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245

G

Bet1 golgi vesicular membrane trafficking protein like

DNA:SNP:rs2280543(human)

NCBI chr 2:26,475...31,960
Ensembl chr 2:26,478...30,574

G

collagen type IV alpha 1 chain

DNA:hypomethylation:uterus (human)

NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322

G

collagen type IV alpha 2 chain

DNA:hypomethylation:uterus (human)

NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614

G

collagen type VI alpha 3 chain

DNA:hypomethylation:uterus (human)

NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709

G

death associated protein kinase 1

DNA:hypermethylation:uterus (human)

NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350

G

distal-less homeobox 3

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157

G

fumarate hydratase

ClinVar Annotator: match by term: Uterine leiomyoma

PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532

NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,824

G

high mobility group AT-hook 2

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr 5:30,188,521...30,329,635

G

insulin receptor substrate 1

DNA:hypomethylation:uterus (human)

NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,307,284

G

mediator complex subunit 12

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr X:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333

G

neurotrimin

treatment

NCBI chr 9:57,965,751...58,967,534
Ensembl chr 9:58,743,504...58,968,355

G

NUAK family kinase 1

DNA:hypermethylation:uterus (human)

NCBI chr 5:14,089,584...14,177,584
Ensembl chr 5:14,102,006...14,177,584

G

patched 1

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr 5:8,052,434...8,311,811
Ensembl chr 5:8,063,985...8,311,429

G

TSC complex subunit 2

OMIM:150699

NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371

uterus interstitial leiomyoma

term browser

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PubMed Reference(s)

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G

BCL2 like 1

associated with Carcinoma, Renal Cell;protein:increased expression:uterus

NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694

Vascular Neoplasms

term browser

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Object Name

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Source

PubMed Reference(s)

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G

delta like canonical Notch ligand 4

NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411

von Hippel-Lindau disease

term browser

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641

G

cyclin D1

susceptibility

ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF

PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More...

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

endothelial PAS domain protein 1

protein:increased expression:kidney:

NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079

G

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827

G

matrix metallopeptidase 3

onset

NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More...

NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378

G

solute carrier family 18 member A1

mRNA:increased expression:tumor (human)

NCBI chr14:4,243,553...4,279,341
Ensembl chr14:4,243,557...4,275,243

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More...

NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654

Term paths to the root

Path 1
Term	Annotations
disease	15426
disease of cellular proliferation	7370
Neoplasms by Histologic Type	5066
Connective and Soft Tissue Neoplasms	1803
Soft Tissue Neoplasms	186
Hapnes Boman Skeie Syndrome	0
Intimal Sarcoma	0
Muscle Tissue Neoplasms +	185
Vascular Neoplasms	1

paths to the root