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
Accession: DOID:272
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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Ace
angiotensin I converting enzyme
ISO
protein:increased expression:serum (human)
RGD
PMID:21290180
RGD:25671452
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
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Itgb3
integrin subunit beta 3
ISO
DNA:missense mutation: :p.L33P (human)
RGD
PMID:18685811
RGD:10755472
NCBI chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:18685811
RGD:10755472
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
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Serpine1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:18685811
RGD:10755472
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357
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Apoa1
apolipoprotein A1
ISO
protein: decreased expression: plasma (human)
RGD
PMID:21145806
RGD:25671435
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729
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F5
coagulation factor V
severity disease_progression susceptibility
ISO
ClinVar Annotator: match by term: Budd-Chiari syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:R506Q (human) associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
OMIM ClinVar CTD RGD
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:7968118 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9518910 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:11018168 PMID:11110695 PMID:11686338 PMID:11950065 PMID:12069454 PMID:12070000 PMID:12421138 PMID:12816860 PMID:14996674 PMID:15208046 PMID:15534175 PMID:15638861 PMID:15946211 PMID:16199547 PMID:16246256 PMID:16493002 PMID:16769590 PMID:16931580 PMID:19486170 PMID:19652888 PMID:20051284 PMID:21116184 PMID:21774968 PMID:22704462 PMID:22992668 PMID:23382263 PMID:23677252 PMID:23900608 PMID:24033266 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26990548 PMID:27797270 PMID:28492532 PMID:28750087 PMID:30924984 PMID:31064749 PMID:31399523 PMID:34355501 PMID:29771426 PMID:26238013 PMID:9245936 PMID:16825912 More...
RGD:14700660 , RGD:11537993 , RGD:15036813 , RGD:14700661
NCBI chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Budd-Chiari syndrome
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:236,483,530...236,487,065
Ensembl chr 1:236,483,530...236,487,065
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Budd-Chiari syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762
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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 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
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Pkhd1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
ISS
MouseDO
NCBI chr 9:30,040,466...30,533,834
Ensembl chr 9:30,046,038...30,533,935
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Alb
albumin
ISO
associated with ascites
RGD
PMID:8664482
RGD:1601159
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1385068
NCBI chr11:90,461,546...90,462,823
Ensembl chr11:90,461,546...90,462,823
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Hepatic hemangioma
ClinVar
PMID:33912852
NCBI chr 5:144,917,791...144,920,324
Ensembl chr 5:144,914,147...144,921,216
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
protein:decreased activity:plasma (human)
RGD
PMID:12040478
RGD:10449042
NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:164,015,903...164,021,378
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8602625
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Beta-Thalassemia;
RGD
PMID:15142875
RGD:10450877
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
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Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:15834437
RGD:8694354
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208
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Hmox1
heme oxygenase 1
IDA
RGD
PMID:19387321
RGD:4145318
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818
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Mmp9
matrix metallopeptidase 9
IEP
protein:increased expression:blood, liver, lung
RGD
PMID:23303633
RGD:13204885
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:24583625
RGD:14696752
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
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Ocln
occludin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17015055
NCBI chr 2:33,391,303...33,442,207
Ensembl chr 2:33,391,303...33,430,411
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Thbs1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35357534
NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:125,510,250...125,525,402
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Sp110
SP110 nuclear body protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency | ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
CTD OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16648851 PMID:16803959 PMID:16816019 PMID:17149599 PMID:17510920 PMID:17576681 PMID:19780822 PMID:20301448 PMID:21536091 PMID:22621957 PMID:23448538 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 PMID:28825155 PMID:32888943 More...
NCBI chr 9:93,648,574...93,673,476
Ensembl chr 9:93,648,575...93,670,659
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Sp140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency | ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
ClinVar
PMID:9536098 PMID:16648851 PMID:16803959 PMID:17510920 PMID:17576681 PMID:19780822 PMID:20301448 PMID:21536091 PMID:22621957 PMID:23448538 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 PMID:28825155 PMID:32888943 More...
NCBI chr 9:93,672,536...93,722,596
Ensembl chr 9:93,667,989...93,722,593
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Dguok
deoxyguanosine kinase
ISO
ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 1
OMIM ClinVar
PMID:9536098 PMID:11983456 PMID:12205643 PMID:14568816 PMID:14623087 PMID:16263314 PMID:17073823 PMID:17452231 PMID:17576681 PMID:18205204 PMID:19103789 PMID:19265691 PMID:23043144 PMID:24321534 PMID:24642831 PMID:25131622 PMID:25741868 PMID:26874653 PMID:27324545 PMID:28492532 PMID:28493820 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30366773 PMID:30393377 PMID:30956829 PMID:31664448 PMID:32482602 More...
NCBI chr 4:117,544,784...117,572,414
Ensembl chr 4:117,544,773...117,572,414
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Gimap5
GTPase, IMAP family member 5
ISO
ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 2
OMIM ClinVar
PMID:25741868 PMID:29382851 PMID:33956074 PMID:35753512
NCBI chr 4:79,025,151...79,031,917
Ensembl chr 4:79,024,304...79,039,030
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F2rl3
F2R like thrombin or trypsin receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20974703
NCBI chr16:17,151,516...17,153,509
Ensembl chr16:17,151,516...17,153,823
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Adm
adrenomedullin
ISO
mRNA:increased expression:liver
RGD
PMID:15086360
RGD:1625304
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:174,178,773...174,182,371
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Alox5
arachidonate 5-lipoxygenase
IDA
associated with Liver Cirrhosis, Experimental
RGD
PMID:11832453
RGD:1626153
NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:151,203,949...151,251,126
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Angpt2
angiopoietin 2
IDA
RGD
PMID:19070926
RGD:2314171
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:77,790,563...77,841,239
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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 chr10:55,645,539...55,653,485
Ensembl chr10:55,645,357...55,653,487
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Avp
arginine vasopressin
IMP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:6696534 PMID:18987488
RGD:2301924
NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522
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Avpr1a
arginine vasopressin receptor 1A
ISO
associated with Liver Cirrhosis;mRNA:increased expression:liver, artery
RGD
PMID:12641544
RGD:2300334
NCBI chr 7:59,999,743...60,003,667
Ensembl chr 7:59,999,738...60,003,837
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Bdkrb2
bradykinin receptor B2
IMP
RGD
PMID:19950773
RGD:4891055
NCBI chr 6:130,237,055...130,267,205
Ensembl chr 6:130,237,255...130,267,209
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Ccl2
C-C motif chemokine ligand 2
ISO
associated with biliary atresia;
RGD
PMID:17161183
RGD:14995924
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
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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 1:144,709,278...144,817,388
Ensembl chr 1:144,709,691...144,815,880
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Cpeb4
cytoplasmic polyadenylation element binding protein 4
treatment
ISO
protein:increased expression:mesentary
RGD
PMID:26627607 PMID:26627607
RGD:11528851 , RGD:11528851
NCBI chr10:16,222,271...16,284,248
Ensembl chr10:16,225,672...16,283,787
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:21347560
RGD:9491791
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
RGD
PMID:21347560
RGD:9491791
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
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Dbh
dopamine beta-hydroxylase
IEP
protein:decreased expression:mesenteric artery (rat)
RGD
PMID:19968782
RGD:5129480
NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:30,886,328...30,903,316
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Ddc
dopa decarboxylase
IEP
mRNA:decreased expression:superior mesenteric artery (rat)
RGD
PMID:18457899
RGD:5129683
NCBI chr14:90,592,304...90,682,830
Ensembl chr14:90,592,304...90,682,806
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Dguok
deoxyguanosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:117,544,784...117,572,414
Ensembl chr 4:117,544,773...117,572,414
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Dusp1
dual specificity phosphatase 1
IEP
mRNA, protein:increased expression:stomach mucosa protein:increased expression:gastric mucosa
RGD
PMID:11758828 PMID:11679970
RGD:2298677 , RGD:401976388
NCBI chr10:17,184,853...17,187,646
Ensembl chr10:17,184,823...17,187,644
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Edn1
endothelin 1
IDA
RGD
PMID:17214938
RGD:4892595
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687
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Ednra
endothelin receptor type A
IMP
RGD
PMID:17214938
RGD:4892595
NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284
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Ednrb
endothelin receptor type B
IMP
RGD
PMID:17214938
RGD:4892595
NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765
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F5
coagulation factor V
IEP
associated with Acute Hepatitis;protein:decreased expression:serum (human)
RGD
PMID:2777210
RGD:14700665
NCBI chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247
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Fgfr2
fibroblast growth factor receptor 2
IEP
mRNA, protein:decreased expression:esophagus mucosa (rat)
RGD
PMID:8644008
RGD:155882599
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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Gch1
GTP cyclohydrolase 1
treatment
IEP
associated with liver cirrhosis
RGD
PMID:35004731
RGD:329961333
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412
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Gimap5
GTPase, IMAP family member 5
ISO
ClinVar Annotator: match by term: Portal hypertension
ClinVar
PMID:25741868 PMID:29382851 PMID:33956074 PMID:35753512
NCBI chr 4:79,025,151...79,031,917
Ensembl chr 4:79,024,304...79,039,030
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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 1:211,010,259...211,031,013
Ensembl chr 1:211,009,978...211,031,015
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Hmox1
heme oxygenase 1
IDA
RGD
PMID:16830363
RGD:1582701
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818
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Hsp90aa1
heat shock protein 90 alpha family class A member 1
IEP
mRNA:decreased expression:stomach (rat)
RGD
PMID:19383083
RGD:5686823
NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:135,523,616...135,528,499
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Il1b
interleukin 1 beta
IEP
protein:increased expression:serum
RGD
PMID:15951934
RGD:1626634
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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Jak2
Janus kinase 2
severity
IMP
associated with liver cirrhosis
RGD
PMID:26385087
RGD:18337263
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762
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Mapk1
mitogen activated protein kinase 1
IDA
protein:increased phosphorylation:gastric mucosa
RGD
PMID:11259371
RGD:401976386
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825
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Mtor
mechanistic target of rapamycin kinase
treatment
IMP
associated with Liver Cirrhosis
RGD
PMID:24404143
RGD:10041031
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435
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Ngfr
nerve growth factor receptor
IEP
protein:increased expression:superior mesenteric ganglion
RGD
PMID:22292477
RGD:10414081
NCBI chr10:81,012,077...81,030,305
Ensembl chr10:81,012,089...81,030,305
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Nos1
nitric oxide synthase 1
treatment
IDA
associated with liver cirrhosis
RGD
PMID:10727442
RGD:13824993
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837
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Nos3
nitric oxide synthase 3
treatment
IDA IEP ISO
associated with Liver Cirrhosis, Biliary CTD Direct Evidence: therapeutic mRNA:increased expression:aorta (rat)
CTD RGD
PMID:18070013 PMID:16142243 PMID:29263339 PMID:10889169
RGD:1580269 , RGD:13504710 , RGD:7794685
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664
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Nr1d1
nuclear receptor subfamily 1, group D, member 1
treatment
IEP
associated with Cholestasis
RGD
PMID:24497272
RGD:10448995
NCBI chr10:84,224,599...84,231,812
Ensembl chr10:84,224,540...84,231,812
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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 7:25,733,471...25,829,440
Ensembl chr 7:25,733,471...25,829,389
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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 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347
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Prkcd
protein kinase C, delta
ISO
mRNA:decreased expression:spleen, macrophage
RGD
PMID:17659678
RGD:1642521
NCBI chr16:5,775,681...5,806,122
Ensembl chr16:5,775,681...5,805,839
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Prl
prolactin
IDA
protein:decreased expression:plasma
RGD
PMID:17119344
RGD:1642556
NCBI chr17:38,287,355...38,298,234
Ensembl chr17:38,288,162...38,298,217
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Pten
phosphatase and tensin homolog
IDA
RGD
PMID:14525948
RGD:1581280
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:17876871
RGD:1642587
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
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Ren
renin
ISO
RGD
PMID:12854169
RGD:1580698
NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543
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Serpinf1
serpin family F member 1
IEP
protein:increased expression:gastric wall (rat)
RGD
PMID:22024088
RGD:8655539
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898
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Th
tyrosine hydroxylase
IEP
mRNA:decreased expression:superior mesenteric artery (rat)
RGD
PMID:19968782
RGD:5129480
NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:207,500,962...207,557,227
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Timp2
TIMP metallopeptidase inhibitor 2
IMP
associated with Liver Cirrhosis, Experimental
RGD
PMID:17351970
RGD:2290408
NCBI chr10:104,041,604...104,089,214
Ensembl chr10:104,041,604...104,089,214
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Tmem67
transmembrane protein 67
ISO
associated with Joubert syndrome 6;DNA:mutations:multiple (human)
RGD
PMID:29112083
RGD:329951005
NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666
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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Vash1
vasohibin 1
disease_progression treatment
IEP ISO
RGD
PMID:24390792 PMID:24390792
RGD:15003198 , RGD:15003198
NCBI chr 6:112,060,086...112,076,689
Ensembl chr 6:112,060,086...112,076,689
G
Vegfa
vascular endothelial growth factor A
ISO IEP
CTD Direct Evidence: therapeutic protein:increased expression:mesentary
CTD RGD
PMID:18416461 PMID:26627607
RGD:11528851
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
G
Xdh
xanthine dehydrogenase
IEP
protein:alternative form:jejunum
RGD
PMID:10562591
RGD:13209137
NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:27,282,057...27,344,350
G
F2
coagulation factor II, thrombin
severity
ISO
associated with liver cirrhosis;protein:increased expression:plasma (human)
RGD
PMID:28465646
RGD:14985237
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246
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 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP: :677C>T(human)
RGD
PMID:27221722 PMID:25987440
RGD:14696705 , RGD:14696749
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
G
Serpine1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:25987440
RGD:14696749
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357
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