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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:smooth muscle tumor
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Accession:DOID:4310 term browser browse the term
Definition:A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle.
Synonyms:exact_synonym: Smooth Muscle Tumors
 primary_id: MESH:D018235
 xref: EFO:1001185;   NCI:C3751
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
smooth muscle tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:127,668,012...127,727,918
Ensembl chr 8:127,667,981...127,719,011 		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 4:163,726...190,145 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 chr20:115,537,880...115,571,150
Ensembl chr20:115,538,026...115,571,142 		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 chr20:2,613,618...2,658,374 JBrowse link
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 chr11:49,524,864...49,534,774
Ensembl chr11:49,525,641...49,534,712 		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 chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172 		JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:29,543,003...32,218,011 JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 severity ISO Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) RGD PMID:15823121 RGD:2289964 NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967 		JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr17:37,848,110...37,857,835
Ensembl chr17:37,849,412...37,853,880 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO Uterine; protein:increased expression:tumor:10/14 tumors (71%) RGD PMID:17367465 RGD:2292170 NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976 		JBrowse link
G MED12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:60,915,796...60,939,220
Ensembl chr  X:60,915,703...60,937,677 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468 		JBrowse link
G XRN2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr 2:50,287,718...50,373,869
Ensembl chr 2:50,288,073...50,373,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15412
    disease of cellular proliferation 7316
      Neoplasms by Site 6781
        organ system benign neoplasm 1225
          musculoskeletal system benign neoplasm 127
            muscle benign neoplasm 52
              smooth muscle tumor 15
                Benign Smooth Muscle Neoplasm 0
                smooth muscle cancer + 14
Path 2
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      nervous system disease 13225
        peripheral nervous system disease 4274
          neuropathy 4088
            neuromuscular disease 3166
              muscular disease 2184
                muscle tissue disease 1320
                  Muscle Tissue Neoplasms 185
                    musculoskeletal system benign neoplasm 127
                      muscle benign neoplasm 52
                        smooth muscle tumor 15
                          Benign Smooth Muscle Neoplasm 0
                          smooth muscle cancer + 14
paths to the root