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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:cardiovascular cancer
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Accession:DOID:176 term browser browse the term
Definition:An organ system cancer that located_in the heart and blood vessels. (DO)
Synonyms:exact_synonym: cardiovascular neoplasm;   cardiovascular tumors
 xref: NCI:C4784
For additional species annotation, visit the Alliance of Genome Resources.



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adenomatoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAF7 TNF receptor associated factor 7 IAGP DNA:missense mutations:multiple RGD PMID:29148537 RGD:151356962 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OGG1 8-oxoguanine DNA glycosylase no_association IEP
IAGP
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
RGD PMID:19265534 PMID:17932460 PMID:17932460 RGD:8657154, RGD:8657155, RGD:8657155 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G STAT1 signal transducer and activator of transcription 1 IEP protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IEP protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G TSC2 TSC complex subunit 2 IEP associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
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 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:20737008 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...42,388,540
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...7,687,538
JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 6:43,770,209...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
familial glomangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein IAGP ClinVar Annotator: match by term: Familial glomangioma ClinVar PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
glomus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein IAGP glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
Glomus Vagale Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein IAGP ClinVar Annotator: match by term: Glomuvenous malformations
ClinVar Annotator: match by term: VENOUS MALFORMATIONS WITH GLOMUS CELLS
ClinVar
OMIM
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
hemangiopericytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLL4 delta like canonical Notch ligand 4 IEP mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G EPHB4 EPH receptor B4 IEP mRNA,protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G HES1 hes family bHLH transcription factor 1 IEP mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 IEP mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IEP mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
JBrowse link
G KDR kinase insert domain receptor IEP mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G NOTCH1 notch receptor 1 IEP mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NOTCH4 notch receptor 4 IEP mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSC2 TSC complex subunit 2 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:29512829 PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
kidney angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTOR mechanistic target of rapamycin kinase treatment IMP associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSS2 acyl-CoA synthetase short chain family member 2 IEP protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr20:34,874,989...34,927,959
Ensembl chr20:34,872,146...34,927,962
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IEP protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410
JBrowse link
G ESR1 estrogen receptor 1 IEP RGD PMID:18285421 RGD:4892300 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase IEP protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
JBrowse link
G GLS glutaminase IEP protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552
JBrowse link
G HES1 hes family bHLH transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
JBrowse link
G JAG2 jagged canonical Notch ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824
JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NOS3 nitric oxide synthase 3 IEP protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PKM pyruvate kinase M1/2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr15:72,199,029...72,231,591
Ensembl chr15:72,199,029...72,231,819
JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 IEP protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,399
JBrowse link
G SLC16A1 solute carrier family 16 member 1 IEP protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 1:112,911,847...112,956,196
Ensembl chr 1:112,911,847...112,957,593
JBrowse link
G SRF serum response factor IEP
IDA
RGD PMID:12654640 PMID:12654640 RGD:1580753, RGD:1580753 NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
JBrowse link
G STAT1 signal transducer and activator of transcription 1 IEP protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IEP protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G TSC1 TSC complex subunit 1 IAGP
EXP
ClinVar Annotator: match by term: Lymphangiomyomatosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:5279523 PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 More... NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP
EXP
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar Annotator: match by term: Lymphangioleiomyomatosis
CTD Direct Evidence: marker/mechanism
DNA:loss of heterozygosity
ClinVar
CTD
OMIM
RGD
PMID:15798 PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 More... RGD:1580521, RGD:11568662 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G VEGFD vascular endothelial growth factor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:15,345,596...15,384,413
Ensembl chr  X:15,345,596...15,384,413
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22315
    disease of anatomical entity 20855
      cardiovascular system disease 4579
        cardiovascular cancer 50
          heart cancer + 0
          vascular cancer + 50
Path 2
Term Annotations click to browse term
  disease 22315
    disease of cellular proliferation 8489
      cancer 5910
        organ system cancer 5669
          cardiovascular cancer 50
            heart cancer + 0
            vascular cancer + 50
paths to the root