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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:leiomyosarcoma
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Accession:DOID:1967 term browser browse the term
Definition:A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. (DO)
Synonyms:exact_synonym: leiomyosarcomas
 primary_id: MESH:D007890
 xref: EFO:0000564;   GARD:6880;   ICDO:8890/3;   NCI:C3158
For additional species annotation, visit the Alliance of Genome Resources.


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leiomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:myometrium RGD PMID:17988723 RGD:2315651 NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO associated with Myometrial Neoplasms;protein:increased expression:myometrium RGD PMID:18156978 RGD:2296049 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Leiomyosarcoma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 severity ISO Uterine RGD PMID:15823121 RGD:2289964 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO Uterine RGD PMID:17367465 RGD:2292170 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306 		JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of cellular proliferation 7891
      cancer 5720
        cell type cancer 3783
          sarcoma 278
            leiomyosarcoma 16
              Carney Triad 3
              anus leiomyosarcoma 0
              bone leiomyosarcoma 0
              breast leiomyosarcoma 0
              central nervous system leiomyosarcoma 0
              colon leiomyosarcoma 0
              conventional leiomyosarcoma 0
              cutaneous leiomyosarcoma 0
              epithelioid leiomyosarcoma + 0
              esophagus leiomyosarcoma 0
              extrahepatic bile duct leiomyosarcoma 0
              fallopian tube leiomyosarcoma 0
              gallbladder leiomyosarcoma 0
              gastric leiomyosarcoma 0
              granular cell leiomyosarcoma 0
              heart leiomyosarcoma 0
              inflammatory leiomyosarcoma 0
              kidney leiomyosarcoma 0
              larynx leiomyosarcoma 0
              liver leiomyosarcoma 0
              lung leiomyosarcoma 0
              mediastinum leiomyosarcoma 0
              myxoid leiomyosarcoma + 0
              ovary leiomyosarcoma 0
              prostate leiomyosarcoma 0
              pulmonary artery leiomyosarcoma 0
              pulmonary vein leiomyosarcoma 0
              rectum leiomyosarcoma 0
              small intestine leiomyosarcoma 0
              superior vena cava leiomyosarcoma 0
              uterus leiomyosarcoma + 0
              vagina leiomyosarcoma 0
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        peripheral nervous system disease 4383
          neuropathy 4171
            neuromuscular disease 3219
              muscular disease 2226
                muscle tissue disease 1354
                  Muscle Tissue Neoplasms 187
                    musculoskeletal system benign neoplasm 130
                      muscle benign neoplasm 55
                        smooth muscle tumor 17
                          smooth muscle cancer 16
                            leiomyosarcoma 16
                              Carney Triad 3
                              anus leiomyosarcoma 0
                              bone leiomyosarcoma 0
                              breast leiomyosarcoma 0
                              central nervous system leiomyosarcoma 0
                              colon leiomyosarcoma 0
                              conventional leiomyosarcoma 0
                              cutaneous leiomyosarcoma 0
                              epithelioid leiomyosarcoma + 0
                              esophagus leiomyosarcoma 0
                              extrahepatic bile duct leiomyosarcoma 0
                              fallopian tube leiomyosarcoma 0
                              gallbladder leiomyosarcoma 0
                              gastric leiomyosarcoma 0
                              granular cell leiomyosarcoma 0
                              heart leiomyosarcoma 0
                              inflammatory leiomyosarcoma 0
                              kidney leiomyosarcoma 0
                              larynx leiomyosarcoma 0
                              liver leiomyosarcoma 0
                              lung leiomyosarcoma 0
                              mediastinum leiomyosarcoma 0
                              myxoid leiomyosarcoma + 0
                              ovary leiomyosarcoma 0
                              prostate leiomyosarcoma 0
                              pulmonary artery leiomyosarcoma 0
                              pulmonary vein leiomyosarcoma 0
                              rectum leiomyosarcoma 0
                              small intestine leiomyosarcoma 0
                              superior vena cava leiomyosarcoma 0
                              uterus leiomyosarcoma + 0
                              vagina leiomyosarcoma 0
paths to the root