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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
JBrowse link
G CCND1 cyclin D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GJA4 gap junction protein alpha 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
JBrowse link
G HRAS HRas proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ameliorates IMP
IEP
human cells in mouse model
protein:increased expression:vasculature (human)
RGD PMID:27531900 PMID:27531900 RGD:329955561, RGD:329955561 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
JBrowse link
G KDR kinase insert domain receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP
EXP
ClinVar Annotator: match by term: Angiosarcoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8456858 PMID:10930038 PMID:12211074 PMID:13678655 PMID:20147967 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP
IAGP
CTD Direct Evidence: marker/mechanism
associated with neoplasms, radiation-induced; DNA:amplification: (human)
CTD
RGD
PMID:17569031 PMID:26440310 RGD:151665099 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G PLCG1 phospholipase C gamma 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr20:41,137,543...41,177,626
Ensembl chr20:41,136,960...41,196,801
JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B EXP
IAGP
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 chr12:70,515,870...70,637,429
Ensembl chr12:70,515,870...70,637,440
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IDA protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G TEK TEK receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174
JBrowse link
G TP53 tumor protein p53 ISO
EXP
CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
CTD
RGD
PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310 RGD:151665099 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VEGFC vascular endothelial growth factor C EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922
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 IAGP DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B IAGP DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr12:70,515,870...70,637,429
Ensembl chr12:70,515,870...70,637,440
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    disease of cellular proliferation 9860
      Neoplasms by Histologic Type 6533
        cell type cancer 4698
          sarcoma 295
            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 35754
    disease of cellular proliferation 9860
      cancer 6816
        organ system cancer 6567
          cardiovascular cancer 57
            vascular cancer 54
              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