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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.


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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 IEP protein:increased expression:serum (human) RGD PMID:21290180 RGD:25671452 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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 IEP protein: decreased expression: plasma (human) RGD PMID:21145806 RGD:25671435 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G F5 coagulation factor V disease_progression
susceptibility
severity
IAGP ClinVar Annotator: match by term: Budd-Chiari syndrome
DNA:missense mutation:cds:R506Q (human)
associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
Factor V Leiden;DNA:missense mutation:cds:G1691A (human)
ClinVar
OMIM
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 chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G F7 coagulation factor VII IAGP ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar PMID:7981691, PMID:10862079, PMID:11931672, PMID:15456489, PMID:15735798, PMID:18282149, PMID:22180436, PMID:25582404, PMID:25741868, PMID:30311386, PMID:31064749 NCBI chr13:113,105,773...113,120,685
Ensembl chr13:113,105,788...113,120,681
Ensembl chr13:113,105,788...113,120,681
JBrowse link
G INSL6 insulin like 6 IAGP 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 9:4,992,409...5,185,707
Ensembl chr 9:5,123,880...5,185,647
JBrowse link
G JAK2 Janus kinase 2 IAGP
EXP
ClinVar Annotator: match by term: Budd-Chiari syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,128,183
Ensembl chr 9:4,984,390...5,128,183
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP 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 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
esophageal varix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin IEP associated with ascites RGD PMID:8664482 RGD:1601159 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G SST somatostatin EXP CTD Direct Evidence: therapeutic CTD PMID:1385068 NCBI chr 3:187,668,912...187,670,394
Ensembl chr 3:187,668,912...187,670,394
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 IEP protein:decreased activity:plasma (human) RGD PMID:12040478 RGD:10449042 NCBI chr 9:133,414,337...133,459,403
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8602625 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G F7 coagulation factor VII IAGP ClinVar Annotator: match by term: Hepatic veno-occlusive disease ClinVar PMID:7981691, PMID:10862079, PMID:11931672, PMID:15456489, PMID:15735798, PMID:18282149, PMID:22180436, PMID:25582404, PMID:25741868, PMID:30311386, PMID:31064749 NCBI chr13:113,105,773...113,120,685
Ensembl chr13:113,105,788...113,120,681
Ensembl chr13:113,105,788...113,120,681
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP associated with Beta-Thalassemia; RGD PMID:15142875 RGD:10450877 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HFE homeostatic iron regulator susceptibility IAGP DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15834437 RGD:8694354 NCBI chr 6:26,087,347...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:19387321 RGD:4145318 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G INSL6 insulin like 6 IAGP ClinVar Annotator: match by term: Hepatic veno-occlusive disease 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 9:4,992,409...5,185,707
Ensembl chr 9:5,123,880...5,185,647
JBrowse link
G JAK2 Janus kinase 2 IAGP ClinVar Annotator: match by term: Hepatic veno-occlusive disease 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 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,128,183
Ensembl chr 9:4,984,390...5,128,183
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:blood, liver, lung RGD PMID:23303633 RGD:13204885 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:24583625 RGD:14696752 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G OCLN occludin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104
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 IAGP ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency
ClinVar
OMIM
PMID:16648851, PMID:16803959, PMID:19780822, PMID:21536091, PMID:22621957, PMID:24033266, PMID:25741868, PMID:27577878, PMID:28492532 NCBI chr 2:230,165,186...230,225,729
Ensembl chr 2:230,165,186...230,225,729
Ensembl chr 2:230,165,186...230,225,729
JBrowse link
G SP140 SP140 nuclear body protein IAGP ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency
ClinVar PMID:16648851, PMID:16803959, PMID:21536091, PMID:22621957, PMID:24033266, PMID:27577878, PMID:28492532 NCBI chr 2:230,202,743...230,316,571
Ensembl chr 2:230,203,110...230,313,215
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chr19:16,888,999...16,892,606
Ensembl chr19:16,888,999...16,892,606
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 chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO associated with Liver Cirrhosis, Experimental RGD PMID:11832453 RGD:1626153 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G ANGPT2 angiopoietin 2 ISO RGD PMID:19070926 RGD:2314171 NCBI chr 8:6,499,632...6,563,420
Ensembl chr 8:6,499,651...6,563,409
Ensembl chr 8:6,499,651...6,563,409
JBrowse link
G ARRB2 arrestin beta 2 treatment ISO
IEP
associated with Liver Cirrhosis, Experimental
associated with Liver Cirrhosis;protein:increased expression:mesenteric artery
RGD PMID:24719556, PMID:24337852 RGD:13506899, RGD:13506901 NCBI chr17:4,710,619...4,721,500
Ensembl chr17:4,710,596...4,721,499
JBrowse link
G AVP arginine vasopressin ISO
EXP
CTD Direct Evidence: therapeutic CTD PMID:6696534, PMID:18987488 RGD:2301924 NCBI chr20:3,082,556...3,093,521
Ensembl chr20:3,082,556...3,084,724
JBrowse link
G AVPR1A arginine vasopressin receptor 1A IEP associated with Liver Cirrhosis;mRNA:increased expression:liver, artery RGD PMID:12641544 RGD:2300334 NCBI chr12:63,142,759...63,151,201
Ensembl chr12:63,142,759...63,150,942
Ensembl chr12:63,142,759...63,150,942
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO RGD PMID:19950773 RGD:4891055 NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
JBrowse link
G CCL2 C-C motif chemokine ligand 2 IEP associated with biliary atresia; RGD PMID:17161183 RGD:14995924 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 treatment ISO protein:increased expression:mesentary RGD PMID:26627607, PMID:26627607 RGD:11528851, RGD:11528851 NCBI chr15:82,543,201...82,648,795
Ensembl chr15:82,543,201...82,648,861
JBrowse link
G CPEB4 cytoplasmic polyadenylation element binding protein 4 treatment IEP
ISO
protein:increased expression:mesentary RGD PMID:26627607, PMID:26627607 RGD:11528851, RGD:11528851 NCBI chr 5:173,888,328...173,961,980
Ensembl chr 5:173,888,349...173,961,980
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:21347560 RGD:9491791 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:21347560 RGD:9491791 NCBI chr 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
JBrowse link
G DBH dopamine beta-hydroxylase ISO protein:decreased expression:mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
JBrowse link
G DDC dopa decarboxylase ISO mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:18457899 RGD:5129683 NCBI chr 7:50,458,436...50,565,460
Ensembl chr 7:50,458,436...50,565,405
JBrowse link
G DGUOK deoxyguanosine kinase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:73,926,827...73,958,961
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA, protein:increased expression:stomach mucosa RGD PMID:11758828 RGD:2298677 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
JBrowse link
G EDN1 endothelin 1 ISO RGD PMID:17214938 RGD:4892595 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:17214938 RGD:4892595 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G EDNRB endothelin receptor type B ISO RGD PMID:17214938 RGD:4892595 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G F5 coagulation factor V IEP associated with Acute Hepatitis;protein:decreased expression:serum (human) RGD PMID:2777210 RGD:14700665 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 treatment ISO protein:increased expression:endothelial cell, liver sinusoid RGD PMID:16142243, PMID:25469036 RGD:1580269, RGD:13514048 NCBI chr11:67,266,420...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:16830363 RGD:1582701 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO mRNA:decreased expression:stomach (rat) RGD PMID:19383083 RGD:5686823 NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,738...102,139,699
Ensembl chr14:102,080,738...102,139,699
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:15951934 RGD:1626634 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G JAK2 Janus kinase 2 severity IMP associated with liver cirrhosis RGD PMID:26385087 RGD:18337263 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,128,183
Ensembl chr 9:4,984,390...5,128,183
JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO associated with Liver Cirrhosis RGD PMID:24404143 RGD:10041031 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G NGFR nerve growth factor receptor ISO protein:increased expression:superior mesenteric ganglion RGD PMID:22292477 RGD:10414081 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NOS1 nitric oxide synthase 1 treatment ISO associated with liver cirrhosis RGD PMID:10727442 RGD:13824993 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO
EXP
CTD Direct Evidence: therapeutic
associated with Liver Cirrhosis, Biliary
mRNA:increased expression:aorta (rat)
CTD PMID:18070013, PMID:16142243, PMID:29263339, PMID:10889169 RGD:1580269, RGD:13504710, RGD:7794685 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 treatment ISO associated with Cholestasis RGD PMID:24497272 RGD:10448995 NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment ISO associated with liver cirrhosis;mRNA:altered expression:liver (rat) RGD PMID:19418582 RGD:15042868 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO protein:altered localization, increased tyrosine phosphorylation:plasma membrane, stomach mucosa RGD PMID:11826414 RGD:1625216 NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PRKCD protein kinase C delta IEP mRNA:decreased expression:spleen, macrophage RGD PMID:17659678 RGD:1642521 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PRL prolactin ISO protein:decreased expression:plasma RGD PMID:17119344 RGD:1642556 NCBI chr 6:22,287,246...22,302,897
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G PTEN phosphatase and tensin homolog ISO RGD PMID:14525948 RGD:1581280 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:17876871 RGD:1642587 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G REN renin IDA RGD PMID:12854169 RGD:1580698 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:gastric wall (rat) RGD PMID:22024088 RGD:8655539 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G TH tyrosine hydroxylase ISO mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chr11:2,163,929...2,174,081
Ensembl chr11:2,163,929...2,171,877
Ensembl chr11:2,163,929...2,171,877
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO associated with Liver Cirrhosis, Experimental RGD PMID:17351970 RGD:2290408 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TNF tumor necrosis factor treatment ISO 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 chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VASH1 vasohibin 1 disease_progression
treatment
ISO
IDA
RGD PMID:24390792, PMID:24390792 RGD:15003198, RGD:15003198 NCBI chr14:76,761,457...76,783,017
Ensembl chr14:76,761,468...76,783,015
JBrowse link
G VEGFA vascular endothelial growth factor A EXP
ISO
CTD Direct Evidence: therapeutic
protein:increased expression:mesentary
CTD PMID:18416461, PMID:26627607 RGD:11528851 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G XDH xanthine dehydrogenase ISO protein:alternative form:jejunum RGD PMID:10562591 RGD:13209137 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
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, thrombin severity IEP associated with liver cirrhosis;protein:increased expression:plasma (human) RGD PMID:28465646 RGD:14985237 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G IGF1R insulin like growth factor 1 receptor susceptibility IAGP associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) RGD PMID:24758241 RGD:14985227 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP: :677C>T(human) RGD PMID:27221722, PMID:25987440 RGD:14696705, RGD:14696749 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      cardiovascular system disease 3918
        vascular disease 2815
          hepatic vascular disease 64
            Budd-Chiari syndrome + 6
            hemangioma of liver 0
            hepatic infarction 0
            hepatic veno-occlusive disease + 13
            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 18864
    disease of anatomical entity 17349
      gastrointestinal system disease 4605
        hepatobiliary disease 0
          liver disease 2464
            hepatic vascular disease 64
              Budd-Chiari syndrome + 6
              hemangioma of liver 0
              hepatic infarction 0
              hepatic veno-occlusive disease + 13
              liver angiosarcoma + 0
              nutmeg liver 0
              peliosis hepatis 1
              portal hypertension + 50
              portal vein thrombosis 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.