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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 ISO DNA:missense mutations:multiple RGD PMID:29148537 RGD:151356962 NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395
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 ISO associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
RGD PMID:17932460 PMID:19265534 RGD:8657154 RGD:8657155 NCBI chr13:66,038,669...66,045,478 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr14:99,929,590...100,021,619 JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
JBrowse link
G TSC2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
JBrowse link
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 chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr13:207,907,835...207,984,082
Ensembl chr13:207,940,948...207,982,938
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
JBrowse link
G GJA4 gap junction protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,394...91,048,162
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
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 RGD:329955561 NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:8456858 PMID:24740626 PMID:25157968 PMID:25808193 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333
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 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,810,048...43,844,554
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 RGD:151361292 RGD:151665099 NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
JBrowse link
G TEK TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,432...196,051,980
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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr15:39,037,764...39,136,234
Ensembl chr15:39,039,311...39,132,936
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 chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289
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 ISO ClinVar Annotator: match by term: Familial glomangioma ClinVar PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
JBrowse link
glomangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations OMIM
ClinVar
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More... NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
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 ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
JBrowse link
heart cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR130A microRNA mir-130a ameliorates ISO RGD PMID:30843379 RGD:242905197 NCBI chr 2:13,296,695...13,296,773
Ensembl chr 2:13,296,695...13,296,773
JBrowse link
G MIR17 microRNA mir-17 ameliorates ISO RGD PMID:30843379 RGD:242905197 NCBI chr11:60,734,656...60,734,732
Ensembl chr11:60,734,656...60,734,732
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 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
JBrowse link
G EPHB4 EPH receptor B4 ISO mRNA,protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385
JBrowse link
G KDR kinase insert domain receptor ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
JBrowse link
G NOTCH1 notch receptor 1 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351
G NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr14:99,929,590...100,021,619 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 ISO DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
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 ISO associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
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 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr17:38,260,152...38,315,764
Ensembl chr17:38,260,147...38,315,757
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911
JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
JBrowse link
G GLS glutaminase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr15:95,513,414...95,606,029
Ensembl chr15:95,513,446...95,598,311
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237
JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:39,935,619...39,941,718
Ensembl chr 3:39,935,475...39,941,712
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
JBrowse link
G PKM pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 7:60,971,807...61,032,780
Ensembl chr 7:60,975,667...61,004,316
Ensembl chr 7:60,975,667...61,004,316
JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr16:24,109,934...24,250,019
Ensembl chr16:24,109,939...24,311,132
JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 4:107,510,920...107,547,609
Ensembl chr 4:107,494,463...107,641,703
JBrowse link
G SRF serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 7:38,213,300...38,223,686
Ensembl chr 7:38,213,487...38,222,144
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis OMIM
ClinVar
PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More... NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis OMIM
ClinVar
PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
JBrowse link
G VEGFD vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:11,893,254...11,933,923
Ensembl chr  X:11,893,259...11,933,809
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17414
    disease of anatomical entity 14840
      cardiovascular system disease 4314
        cardiovascular cancer 54
          heart cancer + 2
          vascular cancer + 52
Path 2
Term Annotations click to browse term
  disease 17414
    disease of cellular proliferation 7144
      cancer 5180
        organ system cancer 4949
          cardiovascular cancer 54
            heart cancer + 2
            vascular cancer + 52
paths to the root