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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:angiosarcoma
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Accession:DOID:0001816 term browser browse the term
Definition:A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. (DO)
Synonyms:exact_synonym: angiosarcomas;   hemangiosarcoma;   hemangiosarcomas
 broad_synonym: vascular sarcoma
 primary_id: MESH:D006394
 xref: EFO:0003967;   EFO:0003968;   ICDO:9120/3;   NCI:C122783;   NCI:C24016;   NCI:C3088;   NCI:C9275


show annotations for term's descendants           Sort by:
angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		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 Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Gja4 gap junction protein, alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO human cells in mouse model
protein:increased expression:vasculature (human)		 RGD PMID:27531900 PMID:27531900 RGD:329955561, RGD:329955561 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angiosarcoma		 CTD
ClinVar		 PMID:8456858 PMID:10930038 PMID:12211074 PMID:13678655 PMID:20147967 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
associated with neoplasms, radiation-induced; DNA:amplification: (human)		 CTD
RGD		 PMID:17569031 PMID:26440310 RGD:151665099 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:24633157 PMID:26440310 PMID:24633157 RGD:151665099, RGD:151361292 NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)		 CTD
RGD		 PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310 RGD:151665099 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848 		JBrowse link
breast angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of cellular proliferation 7758
      Neoplasms by Histologic Type 5360
        cell type cancer 3839
          sarcoma 286
            angiosarcoma 22
              Postmastectomy Angiosarcoma 0
              Radiation Induced Angiosarcoma of the Breast 0
              Stewart Treves Syndrome 0
              aorta angiosarcoma 0
              breast angiosarcoma 3
              central nervous system angiosarcoma 0
              childhood angiosarcoma 0
              conventional angiosarcoma 0
              gallbladder angiosarcoma 0
              liver angiosarcoma + 0
              mediastinum angiosarcoma 0
              ovarian angiosarcoma 0
              prostate angiosarcoma 0
              skin angiosarcoma 0
              spleen angiosarcoma 0
              superior vena cava angiosarcoma 0
              thyroid angiosarcoma 0
Path 2
Term Annotations click to browse term
  disease 18970
    disease of cellular proliferation 7758
      cancer 5585
        organ system cancer 5343
          cardiovascular cancer 56
            vascular cancer 53
              angiosarcoma 22
                Postmastectomy Angiosarcoma 0
                Radiation Induced Angiosarcoma of the Breast 0
                Stewart Treves Syndrome 0
                aorta angiosarcoma 0
                breast angiosarcoma 3
                central nervous system angiosarcoma 0
                childhood angiosarcoma 0
                conventional angiosarcoma 0
                gallbladder angiosarcoma 0
                liver angiosarcoma + 0
                mediastinum angiosarcoma 0
                ovarian angiosarcoma 0
                prostate angiosarcoma 0
                skin angiosarcoma 0
                spleen angiosarcoma 0
                superior vena cava angiosarcoma 0
                thyroid angiosarcoma 0
paths to the root