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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.


show annotations for term's descendants           Sort by:
 
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:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23789224 RGD:10054112 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO protein:increased expression:myometrium RGD PMID:16962107, PMID:23789224 RGD:10054112, RGD:1643479 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BCL2L1 BCL2 like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link
G CAV1 caveolin 1 ISO protein:increased expression:uterus RGD PMID:17952758 RGD:2296031 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CCNG1 cyclin G1 ISO mRNA, protein:increased expression:uterus, myometrium RGD PMID:12634633 RGD:2316023 NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728
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:2289717, RGD:2289780 NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
JBrowse link
G CSNK2B casein kinase 2 beta ISO RGD PMID:25327614 RGD:11565842 NCBI chr 6:31,327,250...31,331,250 JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18701604, PMID:31468104 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:22504913 RGD:9588321 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
JBrowse link
G FASLG Fas ligand ISO protein:increased expression:myometrium RGD PMID:18000229 RGD:2292498 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FGF1 fibroblast growth factor 1 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001
JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G FGF7 fibroblast growth factor 7 ISO RGD PMID:18566572 RGD:2301090 NCBI chr15:28,378,339...28,442,800 JBrowse link
G FZD2 frizzled class receptor 2 ISO mRNA, protein:increased expression:myometrium RGD PMID:12909487 RGD:2298700 NCBI chr17:12,839,362...12,843,803 JBrowse link
G HMGA2 high mobility group AT-hook 2 ISO uterine leiomyoma, OMIM:150699; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 RGD PMID:8954805 RGD:1601568 NCBI chr12:22,954,946...23,096,623 JBrowse link
G HNRNPM heterogeneous nuclear ribonucleoprotein M ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:18566572 RGD:2301090 NCBI chr19:7,731,828...7,776,101
Ensembl chr19:8,579,211...8,624,029
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray RGD PMID:15705628 RGD:2301708 NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132
JBrowse link
G INHBA inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO DNA:translocation:intron:IVS3 (human) RGD PMID:15313893 RGD:9590338 NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975
JBrowse link
G KIF5C kinesin family member 5C ISO mRNA:increased expression:myometrium (human) RGD PMID:20396563 RGD:12859089 NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
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 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876
JBrowse link
G LOC100967334 G-protein coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chr 7:1,245,873...1,251,915 JBrowse link
G MKI67 marker of proliferation Ki-67 ISO RGD PMID:22302692 RGD:6483544 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:myometrium RGD PMID:17943549 RGD:2290362 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22302692 RGD:6483544 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:smooth muscle cell RGD PMID:10671823 RGD:2292088 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 treatment ISO RGD PMID:21896544 RGD:10413890 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO protein:increased expression:myometrium RGD PMID:18000229, PMID:21896544 RGD:10413890, RGD:2292498 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
JBrowse link
G PCP4 Purkinje cell protein 4 ISO mRNA,protein:increased expression:uterine myometrium: RGD PMID:14561813 RGD:9850247 NCBI chr21:26,069,039...26,284,247
Ensembl chr21:39,587,400...39,618,734
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chr 7:648,722...672,023 JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
JBrowse link
G PGR progesterone receptor no_association ISO RGD PMID:15807882 RGD:1601278 NCBI chr11:95,997,677...96,098,866 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:myometrium
protein:increased phosphorylation:myometrium
RGD PMID:17097286, PMID:18000229 RGD:2292498, RGD:2292508 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:17407572 RGD:10043352 NCBI chr 1:70,076,610...70,271,475
Ensembl chr 1:72,059,441...72,254,063
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO RGD PMID:12517589 RGD:2292569 NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
JBrowse link
G SFRP1 secreted frizzled related protein 1 ISO Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15972578 RGD:2298808 NCBI chr 8:40,507,027...40,555,053 JBrowse link
G SMAD3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:17505012 RGD:2302021 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
JBrowse link
G TSC2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15937110, PMID:21145542 RGD:11568684 NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
JBrowse link
G WNT5B Wnt family member 5B ISO Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15972578 RGD:2298808 NCBI chr12:1,633,987...1,757,431
Ensembl chr12:1,691,097...1,708,351
JBrowse link
G WNT7A Wnt family member 7A ISO Uterine Leiomyoma; mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria RGD PMID:11232041 RGD:2298847 NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:15760950 RGD:2302578 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095
JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:97,254,306...97,539,473
Ensembl chr  X:107,625,718...107,908,363
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 chr 1:217,191,065...217,202,578 JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:214,931,514...215,452,739 JBrowse link
G EXO1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:217,410,175...217,451,982
Ensembl chr 1:222,389,684...222,431,556
JBrowse link
G FH fumarate hydratase ISO OMIM NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
JBrowse link
G FMN2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:215,626,889...216,023,590 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 chr 1:216,037,977...216,163,020
Ensembl chr 1:221,026,605...221,027,111
JBrowse link
G KMO kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:217,094,037...217,157,827
Ensembl chr 1:222,075,268...222,138,866
JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:217,558,010...217,562,485
Ensembl chr 1:222,537,401...222,541,244
JBrowse link
G OPN3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:217,155,765...217,202,577
Ensembl chr 1:222,136,422...222,184,598
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 chr 1:217,640,005...218,081,158 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 chr 1:216,329,373...216,919,898
Ensembl chr 1:221,313,924...221,899,627
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G WDR64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:217,214,176...217,364,983
Ensembl chr 1:222,194,990...222,344,758
JBrowse link
G ZP4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:213,435,888...213,444,439
Ensembl chr 1:218,428,967...218,442,383
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: Multiple cutaneous leiomyomas ClinVar PMID:11865300, PMID:12761039, PMID:16575891, PMID:21929734, PMID:22069215, PMID:22595425, PMID:22703879, PMID:24728327, PMID:25741868, PMID:27037871, PMID:28492532, PMID:29909963, PMID:30967997 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
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 chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
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 chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914
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 chr11:197,901...203,307
Ensembl chr11:242,985...248,762
JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:18058223, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30851065 NCBI chr22:9,757,038...9,811,171 JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
JBrowse link
G HMGA2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr12:22,954,946...23,096,623 JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914
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 chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12749
    disease of cellular proliferation 5477
      benign neoplasm 886
        cell type benign neoplasm 734
          leiomyoma 67
            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 + 15
            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 12749
    disease of anatomical entity 12279
      nervous system disease 10025
        peripheral nervous system disease 2340
          neuropathy 2185
            neuromuscular disease 1691
              muscular disease 1129
                muscle tissue disease 758
                  Muscle Tissue Neoplasms 133
                    leiomyoma 67
                      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 + 15
                      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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.