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 (187)

Soft Tissue Neoplasms

term browser

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Object Name

Qualifiers

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 apoptosis regulator

CTD Direct Evidence: therapeutic

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

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

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

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small nuclear ribonucleoprotein D3 polypeptide

severity

mRNA, protein:increased expression:multiple (human)

NCBI chr22:5,361,886...5,378,465
Ensembl chr22:22,227,328...22,246,676

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

PMID:16767912 PMID:17203757

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

Abdominal Fibromatosis

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APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

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

Aggressive Fibromatosis

term browser

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G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

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

G

cellular communication network factor 2

mRNA:increased expression:tumor (human)

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

G

serpin family E member 1

susceptibility

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

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

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

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

alveolar rhabdomyosarcoma

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RGD Reference(s)

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G

forkhead box O1

ClinVar Annotator: match by term: FOXO1-related condition

PMID:25741868 PMID:28492532

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

G

paired box 3

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma

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

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

G

paired box 7

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

PMID:25741868 PMID:31092906 PMID:32214227

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

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

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

G

WW domain containing transcription regulator 1

CTD Direct Evidence: marker/mechanism

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

alveolar soft part sarcoma

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PubMed Reference(s)

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G

ASPSCR1 tether for SLC2A4, UBX domain containing

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

ameloblastoma

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G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

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

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

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

Angiomatoid Fibrous Histiocytoma

term browser

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PubMed Reference(s)

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G

cAMP responsive element binding protein 1

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

bone giant cell tumor

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PubMed Reference(s)

RGD Reference(s)

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G

histone H3.3A

CTD Direct Evidence: marker/mechanism

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

capillary hemangioma

term browser

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

G

cellular communication network factor 1

disease_progression

mRNA:increased expression:skin (human)

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

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Capillary hemangioma

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

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...

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

G

succinate dehydrogenase complex iron sulfur subunit B

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

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

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

G

succinate dehydrogenase complex subunit C

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

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

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

cerebellar angioblastoma

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

chondroblastoma

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G

histone H3.3A

CTD Direct Evidence: marker/mechanism

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

CLOVES syndrome

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

G

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

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

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

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

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: CLOVES syndrome

PMID:25741868 PMID:34040190

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

corpus callosum lipoma

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G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Corpus callosum lipoma

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

desmoid tumor

term browser

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Object Name

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

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid tumor

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

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

diaphyseal medullary stenosis with malignant fibrous histiocytoma

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Source

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

embryonal rhabdomyosarcoma

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

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G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

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

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

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

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

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

G

dystrophin

CTD Direct Evidence: marker/mechanism

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

G

myogenic differentiation 1

CTD Direct Evidence: marker/mechanism

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

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

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

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

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

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

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

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

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

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

Embryonal Rhabdomyosarcoma 1

term browser

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PubMed Reference(s)

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G

solute carrier family 22 member 18

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

Embryonal Rhabdomyosarcoma 2

term browser

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Object Name

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

Epithelioid Leiomyoma

term browser

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Object Name

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PubMed Reference(s)

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G

collagen type IV alpha 5 chain

CTD Direct Evidence: marker/mechanism

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

G

collagen type IV alpha 6 chain

CTD Direct Evidence: marker/mechanism

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

fibroma

term browser

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

G

BRF1 general transcription factor IIIB subunit

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

G

glutamate metabotropic receptor 1

CTD Direct Evidence: marker/mechanism

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

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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G

multifunctional ROCO family signaling regulator 1

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

G

matrix metallopeptidase 21

CTD Direct Evidence: marker/mechanism

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

hemangioblastoma

term browser

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G

C-X-C motif chemokine receptor 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

delta like canonical Notch ligand 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471

G

hes related family bHLH transcription factor with YRPW motif 1

mRNA,protein:increased expression:temporal lobe :

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

G

notch receptor 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

hereditary desmoid disease

term browser

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Object Name

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

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid 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 chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

Hereditary Leiomyomatosis and Renal Cell Cancer

term browser

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

G

cholinergic receptor muscarinic 3

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

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

G

exonuclease 1

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

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

G

fumarate hydratase

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

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

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

G

formin 2

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

NCBI chr 1:215,626,889...216,023,590

G

gremlin 2, DAN family BMP antagonist

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

NCBI chr 1:216,037,977...216,163,020
Ensembl chr 1:221,026,605...221,027,111

G

kynurenine 3-monooxygenase

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

NCBI chr 1:217,094,037...217,157,827
Ensembl chr 1:222,075,268...222,138,866

G

microtubule associated protein 1 light chain 3 gamma

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

NCBI chr 1:217,558,010...217,562,485
Ensembl chr 1:222,537,401...222,541,244

G

opsin 3

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

NCBI chr 1:217,155,765...217,202,577
Ensembl chr 1:222,136,422...222,184,598

G

phospholipase D family member 5

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

NCBI chr 1:217,640,005...218,081,158

G

regulator of G protein signaling 7

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

NCBI chr 1:216,329,373...216,919,898
Ensembl chr 1:221,313,924...221,899,627

G

ryanodine receptor 2

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

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

WD repeat domain 64

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

NCBI chr 1:217,214,176...217,364,983
Ensembl chr 1:222,194,990...222,344,758

G

zona pellucida glycoprotein 4

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

NCBI chr 1:213,435,888...213,444,439
Ensembl chr 1:218,428,967...218,442,383

Hyperparathyroidism 2

term browser

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

G

cell division cycle 73

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

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

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

Infantile Capillary Hemangioma

term browser

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Object Name

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Evidence

Notes

Source

PubMed 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 chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454

G

cyclin H

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149

G

FAT atypical cadherin 4

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

PMID:25741868 PMID:28492532

NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407

G

fms related receptor tyrosine kinase 4

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

PMID:11807987 PMID:25741868 PMID:28492532

NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006

G

kinase insert domain receptor

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

G

myosin heavy chain 9

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

G

solute carrier family 2 member 1

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

G

vascular endothelial growth factor A

disease_progression

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

infantile myofibromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

platelet derived growth factor receptor beta

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

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

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

Infantile Myofibromatosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

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

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

platelet derived growth factor receptor beta

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

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

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

Infantile Myofibromatosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

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

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

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

leiomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

androgen receptor

NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357

G

BCL2 antagonist/killer 1

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

NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211

G

BCL2 associated X, apoptosis regulator

treatment

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

G

BCL2 apoptosis regulator

treatment

protein:increased expression:myometrium

PMID:16962107 PMID:23789224

RGD:10054112 RGD:1643479

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

G

BCL2 like 1

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

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

caveolin 1

protein:increased expression:uterus

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

cyclin G1

mRNA, protein:increased expression:uterus, myometrium

NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728

G

catechol-O-methyltransferase

susceptibility

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

PMID:16443508 PMID:16730007

RGD:2289717 RGD:2289780

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

G

casein kinase 2 beta

NCBI chr 6:31,327,250...31,331,250

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

PMID:18701604 PMID:31468104

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

Fas ligand

protein:increased expression:myometrium

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

G

fibroblast growth factor 1

disease_progression

protein:increased expression:uterus

NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001

G

fibroblast growth factor 2

disease_progression

protein:increased expression:uterus

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

fibroblast growth factor 7

NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163

G

frizzled class receptor 2

mRNA, protein:increased expression:myometrium

NCBI chr17:12,839,362...12,843,803

G

G protein-coupled estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:1,331,586...1,338,194

G

high mobility group AT-hook 2

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

NCBI chr12:22,954,946...23,096,623

G

heterogeneous nuclear ribonucleoprotein M

mRNA:increased expression:uterine myometrium (human)

NCBI chr19:7,731,828...7,776,101
Ensembl chr19:8,579,211...8,624,029

G

insulin like growth factor binding protein 6

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

NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132

G

inhibin subunit beta A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097

G

lysine acetyltransferase 6B

DNA:translocation:intron:IVS3 (human)

NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975

G

kinesin family member 5C

mRNA:increased expression:myometrium (human)

NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221

G

leucyl and cystinyl aminopeptidase

disease_progression

associated with Uterine Neoplasms;protein:increased expression:serum

NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876

G

marker of proliferation Ki-67

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

matrix metallopeptidase 2

protein:increased expression:myometrium

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

MYC proto-oncogene, bHLH transcription factor

treatment

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

G

nitric oxide synthase 3

protein:increased expression:smooth muscle cell

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

poly(ADP-ribose) polymerase 1

treatment

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

proliferating cell nuclear antigen

treatment

protein:increased expression:myometrium

PMID:18000229 PMID:21896544

RGD:10413890 RGD:2292498

NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440

G

Purkinje cell protein 4

mRNA,protein:increased expression:uterine myometrium:

NCBI chr21:26,069,039...26,284,247
Ensembl chr21:39,587,400...39,618,734

G

platelet derived growth factor subunit A

protein:increased expression:myometrium

NCBI chr 7:648,722...672,023

G

platelet derived growth factor subunit B

protein:increased expression:myometrium

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

G

progesterone receptor

no_association

NCBI chr11:95,997,677...96,098,866

G

phosphatase and tensin homolog

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

PMID:17097286 PMID:18000229

RGD:2292498 RGD:2292508

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

G

prostaglandin E receptor 3

mRNA:increased expression:uterine myometrium (human)

NCBI chr 1:70,076,610...70,271,475
Ensembl chr 1:72,059,441...72,254,063

G

protein tyrosine kinase 2

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

G

secreted frizzled related protein 1

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

NCBI chr 8:40,507,027...40,555,053

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185

G

transforming growth factor beta receptor 1

NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

PMID:15937110 PMID:21145542

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

G

Wnt family member 5B

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

NCBI chr12:1,633,987...1,757,431
Ensembl chr12:1,691,097...1,708,351

G

Wnt family member 7A

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

NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386

G

X-ray repair cross complementing 1

susceptibility

DNA:polymorphism: :p.R399Q

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

leiomyoma cutis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fumarate hydratase

ClinVar Annotator: match by term: Multiple cutaneous leiomyomas

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

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

leiomyomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD44 molecule (IN blood group)

NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009

leiomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-Mullerian hormone receptor type 2

protein:increased expression:myometrium

NCBI chr12:35,323,133...35,331,092
Ensembl chr12:36,107,501...36,115,175

G

cyclin dependent kinase inhibitor 2A

associated with Myometrial Neoplasms;protein:increased expression:myometrium

NCBI chr 9:21,803,862...21,831,322

G

checkpoint kinase 2

ClinVar Annotator: match by term: Leiomyosarcoma

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

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

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

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

G

dystrophin

CTD Direct Evidence: marker/mechanism

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

G

fms related receptor tyrosine kinase 1

severity

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

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

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:33,807,171...33,816,603

G

KIT proto-oncogene, receptor tyrosine kinase

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

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

G

mediator complex subunit 12

DNA:missense mutations:cds:

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

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

telomerase reverse transcriptase

mRNA:increased expression:myometrium

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

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

G

5'-3' exoribonuclease 2

mRNA:increased expression:uterus (human)

NCBI chr20:21,260,871...21,347,430
Ensembl chr20:21,222,138...21,308,561

Lipoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PLAG1 zinc finger

CTD Direct Evidence: marker/mechanism

NCBI chr 8:52,607,398...52,657,808
Ensembl chr 8:49,983,627...50,028,591

lipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

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

G

high mobility group AT-hook 2

DNA:multiple chromosomal rearrangements

NCBI chr12:22,954,946...23,096,623

G

menin 1

ClinVar Annotator: match by term: Lipoma, somatic

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

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

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

malignant fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multifunctional ROCO family signaling regulator 1

ClinVar Annotator: match by term: MFHAS1-related condition

PMID:25741868 PMID:28492532

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

G

PPARG coactivator 1 alpha

treatment

human cell line in mouse model

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

RecQ like helicase 4

ClinVar Annotator: match by term: Malignant fibrous histiocytoma

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

Ensembl chr 8:144,267,101...144,276,985

Malignant Granular Cell Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain containing 7

ClinVar Annotator: match by term: malignant granular cell tumor

NCBI chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386

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

Nasopalpebral Lipoma Coloboma Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger DBF-type containing 2

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

PMID:23636874 PMID:27139419

NCBI chr2B:93,516,875...93,556,652
Ensembl chr2B:211,645,765...211,685,047

ossifying fibroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 73

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

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

pulmonary venoocclusive disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis

PMID:18626305 PMID:24292273

NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072

G

eukaryotic translation initiation factor 2 alpha kinase 4

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

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

NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211

Rhabdomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

G

angiopoietin 2

protein:increased expression:blood vessel (rat)

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

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

cyclin dependent kinase inhibitor 2A

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

NCBI chr 9:21,803,862...21,831,322

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:86,017,141...86,044,889

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

G

insulin like growth factor 2

CTD Direct Evidence: marker/mechanism

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

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

mutS homolog 2

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

mutS homolog 6

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

G

neurofibromin 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

G

patched 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

G

prothymosin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2B:118,959,382...118,964,364

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

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solute carrier family 22 member 18

ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic

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

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translocase of inner mitochondrial membrane 10

CTD Direct Evidence: marker/mechanism

NCBI chr11:52,769,429...52,771,763
Ensembl chr11:56,241,078...56,243,351

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tumor protein p53

ClinVar Annotator: match by term: Rhabdomyosarcoma

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

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

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vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

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

smooth muscle tumor

term browser

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N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

Solitary Fibrous Tumors

term browser

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NGFI-A binding protein 2

CTD Direct Evidence: marker/mechanism

PMID:23313952 PMID:23313954

Ensembl chr12:32,085,031...32,091,498

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signal transducer and activator of transcription 6

CTD Direct Evidence: marker/mechanism

PMID:23313952 PMID:23313954

Ensembl chr12:32,068,679...32,085,099

subserous uterine fibroid

term browser

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trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914

uterine fibroid

term browser

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adenosine deaminase

susceptibility

DNA:polymorphisms: :

NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868

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Bet1 golgi vesicular membrane trafficking protein like

DNA:SNP:rs2280543(human)

NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762

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collagen type IV alpha 1 chain

mRNA:increased expression:uterus (human)

NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529

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collagen type IV alpha 2 chain

DNA:hypomethylation:uterus (human)

NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530

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collagen type VI alpha 3 chain

mRNA:increased expression:uterus (human)

NCBI chr2B:124,554,478...124,644,482

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death associated protein kinase 1

mRNA:decreased expression:uterus (human)

NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958

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distal-less homeobox 3

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848

G

fumarate hydratase

ClinVar Annotator: match by term: Uterine leiomyoma

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

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

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glutathione S-transferase mu 5

DNA:hypermethylation:uterus (human)

NCBI chr 1:112,356,184...112,361,731
Ensembl chr 1:127,979,238...128,010,411

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high mobility group AT-hook 2

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr12:22,954,946...23,096,623

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insulin receptor substrate 1

DNA:hypomethylation:uterus (human)

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

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mediator complex subunit 12

ClinVar Annotator: match by term: Uterine leiomyoma

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

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neurotrimin

treatment

NCBI chr11:126,189,660...127,154,890
Ensembl chr11:130,617,876...131,037,876

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NUAK family kinase 1

mRNA:decreased expression:uterus (human)

NCBI chr12:103,642,744...103,720,352
Ensembl chr12:107,037,627...107,113,163

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patched 1

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

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trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914

G

TSC complex subunit 2

OMIM:150699

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

uterus interstitial leiomyoma

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BCL2 like 1

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

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

Vascular Neoplasms

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delta like canonical Notch ligand 4

NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471

von Hippel-Lindau disease

term browser

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BRICK1 subunit of SCAR/WAVE actin nucleating complex

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

NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545

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cyclin D1

susceptibility

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

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

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

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endothelial PAS domain protein 1

protein:increased expression:kidney:

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

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interleukin 1 receptor associated kinase 2

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

NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629

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matrix metallopeptidase 3

onset

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

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succinate dehydrogenase complex iron sulfur subunit B

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

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

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

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solute carrier family 18 member A1

mRNA:increased expression:tumor (human)

NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708

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von Hippel-Lindau tumor suppressor

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

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

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

Term paths to the root

Path 1
Term	Annotations
disease	15833
disease of cellular proliferation	7462
Neoplasms by Histologic Type	5132
Connective and Soft Tissue Neoplasms	1844
Soft Tissue Neoplasms	187
Hapnes Boman Skeie Syndrome	0
Intimal Sarcoma	0
Muscle Tissue Neoplasms +	186
Vascular Neoplasms	1

paths to the root