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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:hepatic vascular disease
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Accession:DOID:272 term browser browse the term
Definition:A vascular disease that is located_in the liver. (DO)
Synonyms:exact_synonym: vascular disorder of liver
 primary_id: RDO:9002801
 xref: NCI:C35442
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased expression:serum (human) RGD PMID:21290180 RGD:25671452 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		JBrowse link
Budd-Chiari syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO protein: decreased expression: plasma (human) RGD PMID:21145806 RGD:25671435 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875 		JBrowse link
G F5 coagulation factor V disease_progression
susceptibility
severity		 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome
DNA:missense mutation:cds:R506Q (human)
associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
ClinVar Annotator: match by OMIM:600880		 OMIM
ClinVar		 PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749, PMID:26238013, PMID:9245936, PMID:16825912, PMID:29771426 RGD:11537993, RGD:15036813, RGD:14700661, RGD:14700660 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:32581362 NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome
ClinVar Annotator: match by OMIM:600880
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:32581362 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition: :677C>T (human)
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)		 RGD PMID:12221667, PMID:26238013 RGD:10449395, RGD:11537993 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
esophageal varix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO associated with ascites RGD PMID:8664482 RGD:1601159 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863 		JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:1385068 NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444 		JBrowse link
hepatic veno-occlusive disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:plasma (human) RGD PMID:12040478 RGD:10449042 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8602625 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Beta-Thalassemia; RGD PMID:15142875 RGD:10450877 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15834437 RGD:8694354 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985 		JBrowse link
G Hmox1 heme oxygenase 1 IDA RGD PMID:19387321 RGD:4145318 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:blood, liver, lung RGD PMID:23303633 RGD:13204885 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:24583625 RGD:14696752 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218 		JBrowse link
hepatic venoocclusive disease with immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency
ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by OMIM:235550		 OMIM
ClinVar		 PMID:16648851 PMID:16803959 PMID:19780822 PMID:21536091 PMID:22621957 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr 9:92,593,909...92,618,867
Ensembl chr 9:92,593,910...92,616,165 		JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency		 ClinVar PMID:16648851 PMID:16803959 PMID:21536091 PMID:22621957 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr 9:92,618,088...92,665,431
Ensembl chr 9:92,618,352...92,665,430 		JBrowse link
peliosis hepatis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2rl3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr16:18,817,797...18,819,790
Ensembl chr16:18,814,622...18,819,833 		JBrowse link
portal hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO mRNA:increased expression:liver RGD PMID:15086360 RGD:1625304 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase IDA associated with Liver Cirrhosis, Experimental RGD PMID:11832453 RGD:1626153 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303 		JBrowse link
G Angpt2 angiopoietin 2 IDA RGD PMID:19070926 RGD:2314171 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195 		JBrowse link
G Arrb2 arrestin, beta 2 treatment IEP
ISO		 associated with Liver Cirrhosis, Experimental
associated with Liver Cirrhosis;protein:increased expression:mesenteric artery		 RGD PMID:24719556, PMID:24337852 RGD:13506899, RGD:13506901 NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134 		JBrowse link
G Avp arginine vasopressin IMP
ISO		 CTD Direct Evidence: therapeutic CTD PMID:6696534, PMID:18987488 RGD:2301924 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460 		JBrowse link
G Avpr1a arginine vasopressin receptor 1A ISO associated with Liver Cirrhosis;mRNA:increased expression:liver, artery RGD PMID:12641544 RGD:2300334 NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308 		JBrowse link
G Bdkrb2 bradykinin receptor B2 IMP RGD PMID:19950773 RGD:4891055 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO associated with biliary atresia; RGD PMID:17161183 RGD:14995924 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 treatment IEP
ISO		 protein:increased expression:mesentary RGD PMID:26627607, PMID:26627607 RGD:11528851, RGD:11528851 NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485 		JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 treatment ISO protein:increased expression:mesentary RGD PMID:26627607, PMID:26627607 RGD:11528851, RGD:11528851 NCBI chr10:15,984,520...16,047,209
Ensembl chr10:15,987,921...16,046,033 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:21347560 RGD:9491791 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP RGD PMID:21347560 RGD:9491791 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514 		JBrowse link
G Dbh dopamine beta-hydroxylase IEP protein:decreased expression:mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898 		JBrowse link
G Ddc dopa decarboxylase IEP mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:18457899 RGD:5129683 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774 		JBrowse link
G Dguok deoxyguanosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061 		JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP mRNA, protein:increased expression:stomach mucosa RGD PMID:11758828 RGD:2298677 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418 		JBrowse link
G Edn1 endothelin 1 IDA RGD PMID:17214938 RGD:4892595 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Ednra endothelin receptor type A IMP RGD PMID:17214938 RGD:4892595 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703 		JBrowse link
G Ednrb endothelin receptor type B IMP RGD PMID:17214938 RGD:4892595 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354 		JBrowse link
G F5 coagulation factor V IEP associated with Acute Hepatitis;protein:decreased expression:serum (human) RGD PMID:2777210 RGD:14700665 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 treatment IEP protein:increased expression:endothelial cell, liver sinusoid RGD PMID:16142243, PMID:25469036 RGD:1580269, RGD:13514048 NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328 		JBrowse link
G Hmox1 heme oxygenase 1 IDA RGD PMID:16830363 RGD:1582701 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 IEP mRNA:decreased expression:stomach (rat) RGD PMID:19383083 RGD:5686823 NCBI chr 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
Ensembl chr 6:135,107,271...135,112,775 		JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:serum RGD PMID:15951934 RGD:1626634 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Jak2 Janus kinase 2 severity IMP associated with liver cirrhosis RGD PMID:26385087 RGD:18337263 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP associated with Liver Cirrhosis RGD PMID:24404143 RGD:10041031 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967 		JBrowse link
G Ngfr nerve growth factor receptor IEP protein:increased expression:superior mesenteric ganglion RGD PMID:22292477 RGD:10414081 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061 		JBrowse link
G Nos1 nitric oxide synthase 1 treatment IDA associated with liver cirrhosis RGD PMID:10727442 RGD:13824993 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IDA
IEP
ISO		 associated with Liver Cirrhosis, Biliary
CTD Direct Evidence: therapeutic
mRNA:increased expression:aorta (rat)		 CTD PMID:18070013, PMID:16142243, PMID:29263339, PMID:10889169 RGD:1580269, RGD:13504710, RGD:7794685 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 treatment IEP associated with Cholestasis RGD PMID:24497272 RGD:10448995 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment IMP associated with liver cirrhosis;mRNA:altered expression:liver (rat) RGD PMID:19418582 RGD:15042868 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IDA protein:altered localization, increased tyrosine phosphorylation:plasma membrane, stomach mucosa RGD PMID:11826414 RGD:1625216 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867 		JBrowse link
G Prkcd protein kinase C, delta ISO mRNA:decreased expression:spleen, macrophage RGD PMID:17659678 RGD:1642521 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746 		JBrowse link
G Prl prolactin IDA protein:decreased expression:plasma RGD PMID:17119344 RGD:1642556 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299 		JBrowse link
G Pten phosphatase and tensin homolog IDA RGD PMID:14525948 RGD:1581280 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:17876871 RGD:1642587 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		JBrowse link
G Ren renin ISO RGD PMID:12854169 RGD:1580698 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151 		JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:increased expression:gastric wall (rat) RGD PMID:22024088 RGD:8655539 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287 		JBrowse link
G Th tyrosine hydroxylase IEP mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 IMP associated with Liver Cirrhosis, Experimental RGD PMID:17351970 RGD:2290408 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072 		JBrowse link
G Tnf tumor necrosis factor treatment IEP
IMP		 mRNA:increased expression:stomach (rat) RGD PMID:9834372, PMID:9198288, PMID:10070045, PMID:9537427, PMID:7875478 RGD:14688051, RGD:14995426, RGD:14995425, RGD:14985259, RGD:14975128 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Vash1 vasohibin 1 disease_progression
treatment		 IEP
ISO		 RGD PMID:24390792, PMID:24390792 RGD:15003198, RGD:15003198 NCBI chr 6:110,624,377...110,640,942
Ensembl chr 6:110,624,856...110,637,382 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO
IEP		 CTD Direct Evidence: therapeutic
protein:increased expression:mesentary		 CTD PMID:18416461, PMID:26627607 RGD:11528851 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		JBrowse link
G Xdh xanthine dehydrogenase IEP protein:alternative form:jejunum RGD PMID:10562591 RGD:13209137 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494 		JBrowse link
portal vein thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II severity ISO associated with liver cirrhosis;protein:increased expression:plasma (human) RGD PMID:28465646 RGD:14985237 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor susceptibility ISO associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) RGD PMID:24758241 RGD:14985227 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:27221722, PMID:25987440 RGD:14696705, RGD:14696749 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      cardiovascular system disease 4404
        vascular disease 3327
          hepatic vascular disease 63
            Budd-Chiari syndrome + 5
            hemangioma of liver 0
            hepatic infarction 0
            hepatic veno-occlusive disease + 10
            liver angiosarcoma + 0
            nutmeg liver 0
            peliosis hepatis 1
            portal hypertension + 50
            portal vein thrombosis 4
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      gastrointestinal system disease 5742
        hepatobiliary disease 2529
          liver disease 2436
            hepatic vascular disease 63
              Budd-Chiari syndrome + 5
              hemangioma of liver 0
              hepatic infarction 0
              hepatic veno-occlusive disease + 10
              liver angiosarcoma + 0
              nutmeg liver 0
              peliosis hepatis 1
              portal hypertension + 50
              portal vein thrombosis 4
paths to the root