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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Leiomyosarcoma
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Accession:HP:0100243 term browser browse the term
Definition:A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.
Synonyms:xref: NCI:C3158;   SNOMEDCT_US:443719001;   SNOMEDCT_US:51549004;   UMLS:C0023269


show annotations for term's descendants           Sort by:
Leiomyosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Leiomyosarcoma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
Cutaneous leiomyosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FH fumarate hydratase IAGP HPO MIM:150800 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FLCN folliculin IAGP HPO MIM:135150 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
Uterine leiomyosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:114500 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:114500 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G AURKA aurora kinase A IAGP HPO MIM:114500 NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337 		JBrowse link
G AXIN2 axin 2 IAGP HPO MIM:114500 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator IAGP HPO MIM:114500 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:114500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO MIM:114500 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:114500 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G CCND1 cyclin D1 IAGP HPO MIM:114500 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO MIM:114500 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO MIM:114500 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DLC1 DLC1 Rho GTPase activating protein IAGP HPO MIM:114500 NCBI chr 8:13,083,361...13,604,620
Ensembl chr 8:13,083,361...13,604,610 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:114500 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:114500 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FH fumarate hydratase IAGP HPO MIM:150800 ORPHA:523 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FLCN folliculin IAGP HPO MIM:114500 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G MCC MCC regulator of WNT signaling pathway IAGP HPO MIM:114500 NCBI chr 5:113,022,106...113,488,453
Ensembl chr 5:113,022,106...113,488,823 		JBrowse link
G MLH3 mutL homolog 3 IAGP HPO MIM:114500 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:114500 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PDGFRL platelet derived growth factor receptor like IAGP HPO MIM:114500 NCBI chr 8:17,576,433...17,643,144
Ensembl chr 8:17,576,433...17,644,071 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:114500 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLA2G2A phospholipase A2 group IIA IAGP HPO MIM:114500 NCBI chr 1:19,975,431...19,980,434
Ensembl chr 1:19,975,431...19,980,416 		JBrowse link
G PTPN12 protein tyrosine phosphatase non-receptor type 12 IAGP HPO MIM:114500 NCBI chr 7:77,537,295...77,640,069
Ensembl chr 7:77,537,295...77,640,069 		JBrowse link
G PTPRJ protein tyrosine phosphatase receptor type J IAGP HPO MIM:114500 NCBI chr11:47,980,559...48,170,839
Ensembl chr11:47,980,425...48,170,839 		JBrowse link
G RAD54B RAD54 homolog B IAGP HPO MIM:114500 NCBI chr 8:94,371,960...94,475,115
Ensembl chr 8:94,371,960...94,475,115 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase IAGP HPO MIM:114500 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G TLR2 toll like receptor 2 IAGP HPO MIM:114500 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:114500 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Neoplasm 16244
        Neoplasm by histology 2149
          Sarcoma 207
            Soft tissue sarcoma 133
              Leiomyosarcoma 29
                Cutaneous leiomyosarcoma 2
                Uterine leiomyosarcoma 28
paths to the root