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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Itgb3
integrin subunit beta 3
ISO
DNA:missense mutation: :p.L33P (human)
RGD
PMID:18685811
RGD:10755472
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Serpine1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:18685811
RGD:10755472
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Apoa1
apolipoprotein A1
ISO
protein: decreased expression: plasma (human)
RGD
PMID:21145806
RGD:25671435
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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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)
OMIM ClinVar RGD
PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 PMID:26238013 PMID:9245936 PMID:16825912 PMID:29771426 More...
RGD:11537993 , RGD:15036813 , RGD:14700661 , RGD:14700660
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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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:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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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: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:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Alb
albumin
ISO
associated with ascites
RGD
PMID:8664482
RGD:1601159
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1385068
NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Hepatic hemangioma
ClinVar
PMID:33912852
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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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 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8602625
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Beta-Thalassemia;
RGD
PMID:15142875
RGD:10450877
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:15834437
RGD:8694354
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hmox1
heme oxygenase 1
IDA
RGD
PMID:19387321
RGD:4145318
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Mmp9
matrix metallopeptidase 9
IEP
protein:increased expression:blood, liver, lung
RGD
PMID:23303633
RGD:13204885
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Ocln
occludin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17015055
NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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Thbs1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35357534
NCBI chr 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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Sp110
SP110 nuclear body protein
ISO
ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
OMIM ClinVar
PMID:9536098 PMID:16648851 PMID:16803959 PMID:16816019 PMID:17149599 PMID:17576681 PMID:19780822 PMID:20301448 PMID:21536091 PMID:22621957 PMID:23448538 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
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Sp140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
ClinVar
PMID:9536098 PMID:16648851 PMID:16803959 PMID:17576681 PMID:19780822 PMID:20301448 PMID:21536091 PMID:22621957 PMID:23448538 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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Dguok
deoxyguanosine kinase
ISO
ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 1
OMIM ClinVar
PMID:11983456 PMID:17073823 PMID:17452231 PMID:23043144 PMID:26874653
NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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Gimap5
GTPase, IMAP family member 5
ISO
ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 2
OMIM ClinVar
PMID:29382851 PMID:33956074
NCBI chr 4:77,693,417...77,701,025
Ensembl chr 4:77,687,564...77,703,086
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F2rl3
F2R like thrombin or trypsin receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20974703
NCBI chr16:17,117,441...17,119,434
Ensembl chr16:17,117,441...17,119,472
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Adm
adrenomedullin
ISO
mRNA:increased expression:liver
RGD
PMID:15086360
RGD:1625304
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Alox5
arachidonate 5-lipoxygenase
IDA
associated with Liver Cirrhosis, Experimental
RGD
PMID:11832453
RGD:1626153
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Angpt2
angiopoietin 2
IDA
RGD
PMID:19070926
RGD:2314171
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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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 chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Avp
arginine vasopressin
IMP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:6696534 PMID:18987488
RGD:2301924
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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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 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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Bdkrb2
bradykinin receptor B2
IMP
RGD
PMID:19950773
RGD:4891055
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Ccl2
C-C motif chemokine ligand 2
ISO
associated with biliary atresia;
RGD
PMID:17161183
RGD:14995924
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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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 chr10:15,717,794...15,780,482
Ensembl chr10:15,717,794...15,780,603
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:21347560
RGD:9491791
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
RGD
PMID:21347560
RGD:9491791
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Dbh
dopamine beta-hydroxylase
IEP
protein:decreased expression:mesenteric artery (rat)
RGD
PMID:19968782
RGD:5129480
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
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Ddc
dopa decarboxylase
IEP
mRNA:decreased expression:superior mesenteric artery (rat)
RGD
PMID:18457899
RGD:5129683
NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
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Dguok
deoxyguanosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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Dusp1
dual specificity phosphatase 1
IEP
mRNA, protein:increased expression:stomach mucosa
RGD
PMID:11758828
RGD:2298677
NCBI chr10:16,680,489...16,683,276
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Edn1
endothelin 1
IDA
RGD
PMID:17214938
RGD:4892595
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Ednra
endothelin receptor type A
IMP
RGD
PMID:17214938
RGD:4892595
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Ednrb
endothelin receptor type B
IMP
RGD
PMID:17214938
RGD:4892595
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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F5
coagulation factor V
IEP
associated with Acute Hepatitis;protein:decreased expression:serum (human)
RGD
PMID:2777210
RGD:14700665
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Gimap5
GTPase, IMAP family member 5
ISO
ClinVar Annotator: match by term: Portal hypertension
ClinVar
PMID:29382851 PMID:33956074
NCBI chr 4:77,693,417...77,701,025
Ensembl chr 4:77,687,564...77,703,086
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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 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Hmox1
heme oxygenase 1
IDA
RGD
PMID:16830363
RGD:1582701
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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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 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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Il1b
interleukin 1 beta
IEP
protein:increased expression:serum
RGD
PMID:15951934
RGD:1626634
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Jak2
Janus kinase 2
severity
IMP
associated with liver cirrhosis
RGD
PMID:26385087
RGD:18337263
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Mtor
mechanistic target of rapamycin kinase
treatment
IMP
associated with Liver Cirrhosis
RGD
PMID:24404143
RGD:10041031
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Ngfr
nerve growth factor receptor
IEP
protein:increased expression:superior mesenteric ganglion
RGD
PMID:22292477
RGD:10414081
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nos1
nitric oxide synthase 1
treatment
IDA
associated with liver cirrhosis
RGD
PMID:10727442
RGD:13824993
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nr1d1
nuclear receptor subfamily 1, group D, member 1
treatment
IEP
associated with Cholestasis
RGD
PMID:24497272
RGD:10448995
NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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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 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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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 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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Prkcd
protein kinase C, delta
ISO
mRNA:decreased expression:spleen, macrophage
RGD
PMID:17659678
RGD:1642521
NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
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Prl
prolactin
IDA
protein:decreased expression:plasma
RGD
PMID:17119344
RGD:1642556
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Pten
phosphatase and tensin homolog
IDA
RGD
PMID:14525948
RGD:1581280
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:17876871
RGD:1642587
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Ren
renin
ISO
RGD
PMID:12854169
RGD:1580698
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Serpinf1
serpin family F member 1
IEP
protein:increased expression:gastric wall (rat)
RGD
PMID:22024088
RGD:8655539
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Th
tyrosine hydroxylase
IEP
mRNA:decreased expression:superior mesenteric artery (rat)
RGD
PMID:19968782
RGD:5129480
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Timp2
TIMP metallopeptidase inhibitor 2
IMP
associated with Liver Cirrhosis, Experimental
RGD
PMID:17351970
RGD:2290408
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vash1
vasohibin 1
disease_progression treatment
IEP ISO
RGD
PMID:24390792 PMID:24390792
RGD:15003198 , RGD:15003198
NCBI chr 6:106,330,374...106,345,740
Ensembl chr 6:106,329,123...106,345,726
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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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xdh
xanthine dehydrogenase
IEP
protein:alternative form:jejunum
RGD
PMID:10562591
RGD:13209137
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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F2
coagulation factor II
severity
ISO
associated with liver cirrhosis;protein:increased expression:plasma (human)
RGD
PMID:28465646
RGD:14985237
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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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 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP: :677C>T(human)
RGD
PMID:27221722 PMID:25987440
RGD:14696705 , RGD:14696749
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Serpine1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:25987440
RGD:14696749
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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