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RGD DISEASE ONTOLOGY - ANNOTATIONS

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:leiomyoma
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Accession:DOID:127 term browser browse the term
Definition:A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.
Synonyms:exact_synonym: Fibroid;   Fibroid Tumor;   Fibroid Tumors;   Fibroid Uterus;   Fibroids;   Fibromyoma;   Fibromyomas;   Leiomyomas;   Uterine Fibroma;   Uterine Fibromas;   leiomyomatous neoplasm;   leiomyomatous tumor
 primary_id: MESH:D007889
 alt_id: RDO:0005971
 xref: NCI:C3157;   NCI:C60426
For additional species annotation, visit the Alliance of Genome Resources.



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leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO RGD PMID:15704521 RGD:1578690 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:23789224 RGD:10054112 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO
IEP
protein:increased expression:myometrium RGD PMID:16962107 PMID:23789224 RGD:1643479, RGD:10054112 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bcl2l1 Bcl2-like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Cav1 caveolin 1 ISO protein:increased expression:uterus RGD PMID:17952758 RGD:2296031 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Ccng1 cyclin G1 ISO mRNA, protein:increased expression:uterus, myometrium RGD PMID:12634633 RGD:2316023 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M
protein:increased expression:myometrium
RGD PMID:16443508 PMID:16730007 RGD:2289780, RGD:2289717 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Csnk2b casein kinase 2 beta ISO RGD PMID:25327614 RGD:11565842 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18701604 PMID:31468104 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit IEP RGD PMID:22504913 RGD:9588321 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Faslg Fas ligand ISO protein:increased expression:myometrium RGD PMID:18000229 RGD:2292498 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fgf1 fibroblast growth factor 1 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
JBrowse link
G Fgf2 fibroblast growth factor 2 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO RGD PMID:18566572 RGD:2301090 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
JBrowse link
G Fzd2 frizzled class receptor 2 ISO mRNA, protein:increased expression:myometrium RGD PMID:12909487 RGD:2298700 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO uterine leiomyoma, OMIM:150699 RGD PMID:8954805 RGD:1601568 NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784
JBrowse link
G Hnrnpm heterogeneous nuclear ribonucleoprotein M ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:18566572 RGD:2301090 NCBI chr 7:14,438,703...14,476,781
Ensembl chr 7:14,438,688...14,476,762
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray (human) RGD PMID:15705628 RGD:2301708 NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
JBrowse link
G Inhba inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:translocation:intron:IVS3 (human) RGD PMID:15313893 RGD:9590338 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:myometrium (human) RGD PMID:20396563 RGD:12859089 NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase disease_progression ISO associated with Uterine Neoplasms;protein:increased expression:serum RGD PMID:7446622 RGD:2314924 NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544
JBrowse link
G Mki67 marker of proliferation Ki-67 IDA RGD PMID:22302692 RGD:6483544 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:myometrium RGD PMID:17943549 RGD:2290362 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22302692 RGD:6483544 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:smooth muscle cell RGD PMID:10671823 RGD:2292088 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 treatment IEP RGD PMID:21896544 RGD:10413890 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO
IEP
protein:increased expression:myometrium RGD PMID:18000229 PMID:21896544 RGD:2292498, RGD:10413890 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
G Pcp4 Purkinje cell protein 4 ISO mRNA,protein:increased expression:uterine myometrium: RGD PMID:14561813 RGD:9850247 NCBI chr11:35,759,711...35,861,725
Ensembl chr11:35,800,713...35,861,725
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pgr progesterone receptor no_association ISO RGD PMID:15807882 RGD:1601278 NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased phosphorylation:myometrium
protein:decreased expression:myometrium
RGD PMID:17097286 PMID:18000229 RGD:2292508, RGD:2292498 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:17407572 RGD:10043352 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO RGD PMID:12517589 RGD:2292569 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Sfrp1 secreted frizzled-related protein 1 ISO Uterine leiomyoma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15972578 PMID:15972578 RGD:2298808 NCBI chr16:68,575,763...68,613,905
Ensembl chr16:68,575,763...68,614,286
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 IMP RGD PMID:17505012 RGD:2302021 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15937110 PMID:21145542 RGD:11568684 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Wnt5b Wnt family member 5B ISO Uterine leiomyoma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15972578 PMID:15972578 RGD:2298808 NCBI chr 4:152,609,566...152,733,790
Ensembl chr 4:152,609,569...152,733,407
JBrowse link
G Wnt7a Wnt family member 7A ISO RGD PMID:11232041 RGD:2298847 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:15760950 RGD:2302578 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
Epithelioid Leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen type IV alpha 5 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500
JBrowse link
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,613,610...87,615,475
Ensembl chr13:87,589,298...87,619,862
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
JBrowse link
G Fh fumarate hydratase ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
ClinVar
CTD
OMIM
RGD
PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 More... RGD:1598939 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:86,454,256...86,771,437 JBrowse link
G Grem2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:86,778,543...86,871,509
Ensembl chr13:86,778,500...86,871,615
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,589,330...87,619,847
Ensembl chr13:87,589,333...87,619,847
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
JBrowse link
G Rgs7 regulator of G-protein signaling 7 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:86,979,269...87,408,834
Ensembl chr13:86,979,279...87,408,888
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
JBrowse link
G Zp4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:59,005,649...59,012,202
Ensembl chr17:59,005,649...59,012,202
JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Cutaneous leiomyoma
ClinVar Annotator: match by term: Multiple cutaneous leiomyomas
ClinVar PMID:11865300 PMID:12761039 PMID:16575891 PMID:21929734 PMID:22069215 More... NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
leiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd44 CD44 molecule (Indian blood group) ISO RGD PMID:15762960 RGD:2296043 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
subserous uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bet1l Bet1 golgi vesicular membrane trafficking protein-like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr 1:195,930,165...195,935,072
Ensembl chr 1:195,931,411...195,935,040
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
G Tsc2 TSC complex subunit 2 ISS OMIM:150699 MouseDO NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
uterus interstitial leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:uterus RGD PMID:16962107 RGD:1643479 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    disease of cellular proliferation 7051
      benign neoplasm 1938
        cell type benign neoplasm 1751
          leiomyoma 65
            Epithelioid Leiomyoma 2
            angiomyoma + 0
            anus leiomyoma 0
            appendix leiomyoma 0
            bizarre leiomyoma + 0
            bladder leiomyoma 0
            breast leiomyoma 0
            cellular leiomyoma + 0
            central nervous system leiomyoma 0
            deep leiomyoma 0
            esophagus leiomyoma 0
            extrahepatic bile duct leiomyoma 0
            fallopian tube leiomyoma 0
            gallbladder leiomyoma 0
            large bowel leiomyoma + 0
            larynx leiomyoma 0
            leiomyoma cutis 1
            leiomyomatosis + 14
            liver leiomyoma 0
            lung leiomyoma + 0
            mediastinum leiomyoma 0
            pericardium leiomyoma 0
            prostate leiomyoma 0
            small intestine leiomyoma 0
            trachea leiomyoma + 0
            ureter leiomyoma 0
            urethra leiomyoma 0
            uterine fibroid + 8
            vagina leiomyoma 0
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        peripheral nervous system disease 2559
          neuropathy 2355
            neuromuscular disease 1875
              muscular disease 1280
                muscle tissue disease 828
                  Muscle Tissue Neoplasms 139
                    leiomyoma 65
                      Epithelioid Leiomyoma 2
                      angiomyoma + 0
                      anus leiomyoma 0
                      appendix leiomyoma 0
                      bizarre leiomyoma + 0
                      bladder leiomyoma 0
                      breast leiomyoma 0
                      cellular leiomyoma + 0
                      central nervous system leiomyoma 0
                      deep leiomyoma 0
                      esophagus leiomyoma 0
                      extrahepatic bile duct leiomyoma 0
                      fallopian tube leiomyoma 0
                      gallbladder leiomyoma 0
                      large bowel leiomyoma + 0
                      larynx leiomyoma 0
                      leiomyoma cutis 1
                      leiomyomatosis + 14
                      liver leiomyoma 0
                      lung leiomyoma + 0
                      mediastinum leiomyoma 0
                      pericardium leiomyoma 0
                      prostate leiomyoma 0
                      small intestine leiomyoma 0
                      trachea leiomyoma + 0
                      ureter leiomyoma 0
                      urethra leiomyoma 0
                      uterine fibroid + 8
                      vagina leiomyoma 0
paths to the root