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 Insufficiency
Accession: DOID:9004250
browse the term
Definition: Conditions in which the LIVER functions fall below the normal ranges. Severe hepatic insufficiency may cause LIVER FAILURE or DEATH. Treatment may include LIVER TRANSPLANTATION.
Synonyms: exact_synonym: Liver Insufficiency
primary_id: MESH:D048550 ; RDO:0007026
For additional species annotation, visit the
Alliance of Genome Resources .
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Cygb
cytoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
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Fgf19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 1:218,058,405...218,061,693
Ensembl chr 1:218,058,405...218,061,693
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Keap1
Kelch-like ECH-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
G
Mapk14
mitogen activated protein kinase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
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Nfe2l2
nuclear factor, erythroid 2-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Abcc2
ATP binding cassette subfamily C member 2
IEP
RGD
PMID:16899240
RGD:1598605
NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
treatment
ISO
associated with Chronic Hepatitis B
RGD
PMID:22321886
RGD:39938835
NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16750869 PMID:18609519
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Atm
ATM serine/threonine kinase
treatment
IEP ISO
RGD
PMID:24565947 , PMID:21224054
RGD:10053604 , RGD:10053606
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
G
Atp7b
ATPase copper transporting beta
ISO IAGP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25134866 , PMID:8291609
RGD:15036817
NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
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Atp7bhts
ATPase copper transporting beta; hepatitis
IAGP
RGD
PMID:8291609
RGD:15036817
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Brip1
BRCA1 interacting protein C-terminal helicase 1
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:24748974
RGD:10755718
NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
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Casp12
caspase 12
treatment
IEP
RGD
PMID:26238033
RGD:13782174
NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
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Casp3
caspase 3
treatment
IEP
RGD
PMID:26238033
RGD:13782174
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Casp8
caspase 8
treatment
ISO
RGD
PMID:12810955
RGD:14695025
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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Casp9
caspase 9
treatment
IEP
RGD
PMID:26238033
RGD:13782174
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
G
Cast
calpastatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16871587
NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:liver (human) protein, mRNA:increased expression:serum, liver
RGD
PMID:8283136 , PMID:12579535
RGD:8549567 , RGD:14995451
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:serum:
RGD
PMID:19247846
RGD:14995923
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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Ccl3
C-C motif chemokine ligand 3
ISO
protein, mRNA:increased expression:serum, liver
RGD
PMID:12579535
RGD:14995451
NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
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Ccl4
C-C motif chemokine ligand 4
ISO
protein, mRNA:increased expression:serum, liver
RGD
PMID:12579535
RGD:14995451
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
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Ccl5
C-C motif chemokine ligand 5
ISO
protein, mRNA:increased expression:liver
RGD
PMID:12579535
RGD:14995451
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Cd14
CD14 molecule
IEP
mRNA:increased expression:liver
RGD
PMID:18070011
RGD:4144156
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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Cd74
CD74 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799971
NCBI chr18:56,071,420...56,080,851
Ensembl chr18:56,071,478...56,080,849
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Col1a2
collagen type I alpha 2 chain
IEP
RGD
PMID:11786959
RGD:7257539
NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
G
Csf3
colony stimulating factor 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21550386 , PMID:18756972 , PMID:21550386
RGD:11039421 , RGD:11039537
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:23227188
RGD:27095895
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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F5
coagulation factor V
severity
ISO
protein:altered expression (human)
RGD
PMID:1740285
RGD:14700653
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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Fas
Fas cell surface death receptor
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:hepatocyte: mRNA,protein:increased expression:liver:
CTD
PMID:12828076 , PMID:10950056 , PMID:28060213 , PMID:25601293 , PMID:25601293
RGD:14700697 , RGD:14700678 , RGD:14700667 , RGD:14700667
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Faslg
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:liver, lymphocyte, serum: mRNA,protein:increased expression:liver: mRNA:increased expression:liver
CTD
PMID:19505222 , PMID:10950056 , PMID:18946736 , PMID:16279913
RGD:14700697 , RGD:14700674 , RGD:14401578
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
G
Fga
fibrinogen alpha chain
treatment
IDA
RGD
PMID:24799907
RGD:11040538
NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
G
Fst
follistatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12560755
NCBI chr 2:46,537,589...46,544,813
Ensembl chr 2:46,538,700...46,544,457
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Gc
GC, vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8666322 PMID:17852808
NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
G
Gfer
growth factor, augmenter of liver regeneration
treatment
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15968720 , PMID:23337881
RGD:9685775
NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
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Gpnmb
glycoprotein nmb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15763343
NCBI chr 4:78,694,447...78,715,685
Ensembl chr 4:78,694,447...78,715,683
G
Gpt
glutamic--pyruvic transaminase
ISO
protein:increased expression:blood
RGD
PMID:28513770
RGD:14975169
NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
G
Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12479984
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
G
Hspa8
heat shock protein family A (Hsp70) member 8
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:15270078
RGD:4891447
NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
G
Il10
interleukin 10
ISO
DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human)
RGD
PMID:30109600
RGD:14975142
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il1rn
interleukin 1 receptor antagonist
ISO
rat model treated with human gene-expressing stem cells CTD Direct Evidence: therapeutic
CTD
PMID:20644519 , PMID:22844472
RGD:6909176
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
Il6
interleukin 6
treatment
IDA
RGD
PMID:27085796
RGD:11062151
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Inhba
inhibin subunit beta A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12560755
NCBI chr17:51,894,869...51,919,998
Ensembl chr17:51,898,217...51,912,496
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Ins1
insulin 1
IEP
mRNA:increased expression:pancreatic islet
RGD
PMID:17097861
RGD:2298712
NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12639207
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
IEP
mRNA, protein:decreased expression:cerebral cortex
RGD
PMID:21538466
RGD:8662894
NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
mRNA:increased expression:liver:
RGD
PMID:10385646
RGD:12910730
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Krt18
keratin 18
ISO
CTD Direct Evidence: marker/mechanism protein:increased degradation:serum (human)
CTD
PMID:20538000 , PMID:17847110
RGD:18337491
NCBI chr 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
G
Krt8
keratin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20538000
NCBI chr 7:143,596,511...143,603,745
Ensembl chr 7:143,596,511...143,603,803
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Lrp1
LDL receptor related protein 1
ISO
associated with Carbon Tetrachloride Poisoning
RGD
PMID:26237273
RGD:13800515
NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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Ltc4s
leukotriene C4 synthase
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:18461660
RGD:2302283
NCBI chr10:35,736,486...35,743,088
Ensembl chr10:35,737,664...35,739,625
G
Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17185352
NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
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Met
MET proto-oncogene, receptor tyrosine kinase
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:17009398
RGD:2317515
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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Milr1
mast cell immunoglobulin-like receptor 1
ISO
ClinVar Annotator: match by term: Liver Failure, Acute
ClinVar
PMID:25741868 PMID:27592148 PMID:30157269
NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
G
Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:24895202
RGD:14401602
NCBI chr18:60,755,285...60,755,369
G
Mir221
microRNA 221
treatment
ISO
RGD
PMID:21400558
RGD:18337268
NCBI chr X:3,684,480...3,684,588
Ensembl chr X:3,684,480...3,684,588
G
Mir223
microRNA 223
disease_progression
ISO
RNA:increased expression:serum,liver
RGD
PMID:28646120 , PMID:25562161
RGD:21408574 , RGD:21408585
NCBI chr X:65,367,812...65,367,921
Ensembl chr X:65,367,812...65,367,921
G
Mt-atp8
mitochondrially encoded ATP synthase membrane subunit 8
disease_progression
ISO
associated with Endotoxemia
RGD
PMID:21167184
RGD:5490296
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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Nbas
NBAS subunit of NRZ tethering complex
ISO
DNA:mutations:multiple
RGD
PMID:26541327
RGD:25671408
NCBI chr 6:38,474,773...38,777,146
Ensembl chr 6:38,474,804...38,777,806
G
Nos2
nitric oxide synthase 2
IEP
protein:increased activity:liver (rat)
RGD
PMID:22001939
RGD:5509102
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Nos3
nitric oxide synthase 3
IEP
mRNA, protein:increased expression:liver
RGD
PMID:17276928
RGD:2292148
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
G
Panx1
Pannexin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29246445
NCBI chr 8:13,567,185...13,606,040
Ensembl chr 8:13,566,739...13,606,040
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Polg2
DNA polymerase gamma 2, accessory subunit
ISO
ClinVar Annotator: match by term: Liver Failure, Acute
ClinVar
PMID:25741868 PMID:27592148 PMID:30157269
NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15313186
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Ptafr
platelet-activating factor receptor
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:11414308
RGD:10043144
NCBI chr 5:150,746,284...150,775,675
Ensembl chr 5:150,754,021...150,775,672
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Ptgs2
prostaglandin-endoperoxide synthase 2
severity
IMP ISO
human gene in mouse model
RGD
PMID:18336855 , PMID:19017995
RGD:2300286 , RGD:14695009
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Rint1
RAD50 interactor 1
ISO
ClinVar Annotator: match by term: Fulminant hepatic failure
ClinVar
PMID:25050558 PMID:25741868 PMID:28492532 PMID:31204009
NCBI chr 4:7,851,602...7,885,446
Ensembl chr 4:7,852,224...7,885,301
G
Sco1
synthesis of cytochrome C oxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20864674
NCBI chr10:53,595,854...53,608,437
Ensembl chr10:53,595,854...53,608,435
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Serpinc1
serpin family C member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4089794 , PMID:22563168
RGD:11035263
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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Thbd
thrombomodulin
IEP
protein:increased expression:serum
RGD
PMID:11882417
RGD:1601654
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
G
Tlr4
toll-like receptor 4
treatment
IEP IMP
mRNA:increased expression:liver
RGD
PMID:18070011 , PMID:20546456
RGD:4144156 , RGD:14700555
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tnf
tumor necrosis factor
severity treatment
IEP ISO
mRNA:increased expression:liver protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:19505222 , PMID:18070011 , PMID:10979906 , PMID:18946736 , PMID:12960499
RGD:4144156 , RGD:14995442 , RGD:14700674 , RGD:10450538
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Ucp2
uncoupling protein 2
IEP
mRNA:increased expression:liver
RGD
PMID:21272461
RGD:7175313
NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
G
Ugt1a1
UDP glucuronosyltransferase family 1 member A1
treatment
ISO
RGD
PMID:29574133
RGD:14402051
NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum:
RGD
PMID:19247846
RGD:14995923
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:serum:
RGD
PMID:19247846
RGD:14995923
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
G
Cxcl10
C-X-C motif chemokine ligand 10
susceptibility
ISO
associated with liver cirrhosis;
RGD
PMID:29105936
RGD:27095953
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
G
Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
protein:hypophosphorylation:liver:
RGD
PMID:26234401
RGD:32716425
NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
G
Ern1
endoplasmic reticulum to nucleus signaling 1
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
G
Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, liver:
RGD
PMID:21489307
RGD:38549358
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
G
Gfer
growth factor, augmenter of liver regeneration
disease_progression
ISO
RGD
PMID:22246190
RGD:9685741
NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
G
Hmgb1
high mobility group box 1
treatment
IMP
RGD
PMID:23591781
RGD:10402084
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
G
Il1rl1
interleukin 1 receptor-like 1
disease_progression
ISO
associated with hepatitis B;
RGD
PMID:28381383
RGD:39938857
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
G
Ppp1r15a
protein phosphatase 1, regulatory subunit 15A
ISO
mRNA,protein:increased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr 1:101,511,899...101,515,043
Ensembl chr 1:101,511,901...101,514,974
G
Tlr3
toll-like receptor 3
susceptibility
ISO
associated with Hepatitis B, Chronic; DNA:SNP: :1234C>T (human)
RGD
PMID:23076446
RGD:21079425
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
G
Tlr4
toll-like receptor 4
treatment
IEP
RGD
PMID:23591781
RGD:10402084
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Xbp1
X-box binding protein 1
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
G
Gfm1
G elongation factor, mitochondrial 1
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar Annotator: match by OMIM:609060
OMIM ClinVar
PMID:15537906 PMID:17160893 PMID:21119709 PMID:21986555 PMID:22277967 PMID:24033266 PMID:25326637 PMID:25741868 PMID:25852744 PMID:28216230 PMID:28492532 PMID:31680380 PMID:32313153
NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
G
Mrpl44
mitochondrial ribosomal protein L44
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1
ClinVar
PMID:25741868
NCBI chr 9:85,542,763...85,547,814
Ensembl chr 9:85,542,702...85,548,144
G
Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1
ClinVar
PMID:25741868
NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
G
Nars2
asparaginyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1
ClinVar
PMID:25741868
NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
G
Vars2
valyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1
ClinVar
PMID:25741868
NCBI chr20:3,588,462...3,599,514
Ensembl chr20:3,588,497...3,599,514
G
Abcb4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22022477
NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
G
Ifnl3
interferon, lambda 3
treatment
ISO
DNA:SNPs:5'utr: (rs12979860, rs8099917) (human)
RGD
PMID:25130512
RGD:40400912
NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
G
Lep
leptin
IEP
protein:decreased expression:serum (human)
RGD
PMID:9640405
RGD:25330350
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15025246
NCBI chr X:6,554,698...6,620,722
Ensembl chr X:6,554,698...6,620,722
G
Nos1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15025246
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with hepatitis C;DNA:polymorphism: :HLA-DQB1*03(human)
RGD
PMID:11302974
RGD:36174014
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with hepatitis C;DNA:polymorphism: : HLA-DRB1*11(human)
RGD
PMID:11302974
RGD:36174014
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
Tnfrsf1a
TNF receptor superfamily member 1A
treatment
IMP
RGD
PMID:23874752
RGD:8661754
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
G
Tspo
translocator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15025246
NCBI chr 7:124,460,358...124,470,610
Ensembl chr 7:124,460,358...124,470,609
G
Abcb1b
ATP-binding cassette, subfamily B (MDR/TAP), member 1B
IEP
associated with Hypertension, Portal
RGD
PMID:24382264
RGD:10395388
NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
G
Ccl2
C-C motif chemokine ligand 2
IEP
mRNA,protein:increased expression:brain, liver,serum:
RGD
PMID:29518527
RGD:14995926
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
Epor
erythropoietin receptor
IEP
associated with Hypertension, Portal
RGD
PMID:24382264
RGD:10395388
NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
G
G6pd
glucose-6-phosphate dehydrogenase
IEP
protein:increased expression:cerebellum
RGD
PMID:20405262
RGD:10449131
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
G
Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
IEP ISO
mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD
PMID:15929193 , PMID:15929193
RGD:6480237
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
G
Gabrb1
gamma-aminobutyric acid type A receptor subunit beta1
IEP ISO
mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD
PMID:15929193 , PMID:15929193
RGD:6480237
NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600
G
Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
IEP ISO
mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD
PMID:15929193 , PMID:15929193
RGD:6480237
NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
G
Gc
GC, vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11510020 , PMID:11521994
RGD:5509929
NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
G
Glud1
glutamate dehydrogenase 1
IEP
mRNA:decreased expression:brain
RGD
PMID:2903433
RGD:6484661
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
G
Glul
glutamate-ammonia ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10564534
NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
G
Gria1
glutamate ionotropic receptor AMPA type subunit 1
IEP
protein:decreased expression:hippocampus, synaptosome (rat)
RGD
PMID:19450629
RGD:4108489
NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
associated with Hypertension, Portal
RGD
PMID:24382264
RGD:10395388
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
G
Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:23670786
RGD:10766445
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Insr
insulin receptor
IEP
protein:decreased expression:hippocampus, cerebral cortex (rat)
RGD
PMID:28505381
RGD:14700777
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
G
Lta
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9696492
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
G
Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9048767 PMID:10206825 PMID:10564534
NCBI chr X:6,554,698...6,620,722
Ensembl chr X:6,554,698...6,620,722
G
Maob
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10564534
NCBI chr X:6,430,694...6,533,520
Ensembl chr X:6,430,594...6,533,534
G
Nos1
nitric oxide synthase 1
IEP ISO
protein:increased expression:neocortex CTD Direct Evidence: marker/mechanism protein:increased expression:brain
CTD
PMID:10206825 PMID:10564534 , PMID:17083474 , PMID:19763802
RGD:1642151 , RGD:5132590
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
G
Nos2
nitric oxide synthase 2
IEP
protein:increased expression:brain
RGD
PMID:19763802
RGD:5132590
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11991257
NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
G
Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224054
NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
G
Ptgs1
prostaglandin-endoperoxide synthase 1
IMP
RGD
PMID:21575628
RGD:5688266
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
G
Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:30940161
RGD:14995440
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9696492 PMID:16338762
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Tspo
translocator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10206825 PMID:10564534
NCBI chr 7:124,460,358...124,470,610
Ensembl chr 7:124,460,358...124,470,609
G
Trmu
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
ISO
DNA:mutations:multiple
RGD
PMID:19732863
RGD:25440486
NCBI chr 7:126,756,140...126,772,749
Ensembl chr 7:126,756,151...126,772,749
G
Lars1
leucyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Infantile liver failure syndrome 1
ClinVar OMIM
PMID:22607940 PMID:25326635 PMID:25741868 PMID:28492532
NCBI chr18:36,524,013...36,579,471
Ensembl chr18:36,524,007...36,579,403
G
Nbas
NBAS subunit of NRZ tethering complex
ISO
ClinVar Annotator: match by term: Infantile liver failure syndrome 2 ClinVar Annotator: match by term: Fever-associated acute infantile liver failure syndrome
ClinVar OMIM
PMID:24033266 PMID:25741868 PMID:26073778 PMID:26286438 PMID:26578240 PMID:28492532 PMID:28576691 PMID:32313153
NCBI chr 6:38,474,773...38,777,146
Ensembl chr 6:38,474,804...38,777,806
G
Rint1
RAD50 interactor 1
ISO
ClinVar Annotator: match by term: INFANTILE LIVER FAILURE SYNDROME 3
OMIM ClinVar
PMID:25050558 PMID:25741868 PMID:28492532 PMID:31204009
NCBI chr 4:7,851,602...7,885,446
Ensembl chr 4:7,852,224...7,885,301
G
Acadm
acyl-CoA dehydrogenase medium chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9090694
NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
G
Arg1
arginase 1
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:11779202
RGD:70249
NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
G
Asl
argininosuccinate lyase
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:11779202
RGD:70249
NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
G
Ass1
argininosuccinate synthase 1
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:11779202
RGD:70249
NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
G
Cps1
carbamoyl-phosphate synthase 1
IEP
mRNA:decreased expression:liver (rat) mRNA:increased expression:liver (rat)
RGD
PMID:8836904 , PMID:11779202
RGD:4140432 , RGD:70249
NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
G
F2
coagulation factor II
severity
ISO
CTD Direct Evidence: marker/mechanism associated with liver cirrhosis;protein:increased expression:blood plasma (human)
CTD
PMID:18618250 , PMID:7615203
RGD:14974253
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
G
Fah
fumarylacetoacetate hydrolase
IMP
RGD
PMID:27510266
RGD:14398823
NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261
G
G6pc1
glucose-6-phosphatase catalytic subunit 1
disease_progression
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:24583248
RGD:14695536
NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
G
Il18
interleukin 18
treatment
IEP
RGD
PMID:23155311
RGD:8655993
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Orm1
orosomucoid 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18256743
NCBI chr 5:79,179,668...79,182,820
Ensembl chr 5:79,179,417...79,182,820
G
Otc
ornithine transcarbamylase
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:11779202
RGD:70249
NCBI chr X:13,524,804...13,601,074
Ensembl chr X:13,524,607...13,601,069
G
Rps10
ribosomal protein S10
IEP
RGD
PMID:501300
RGD:11040911
NCBI chr20:7,215,762...7,220,331
Ensembl chr20:7,215,774...7,219,548
G
Rps6
ribosomal protein S6
IEP
RGD
PMID:501300
RGD:11040911
NCBI chr 5:105,197,821...105,200,681
Ensembl chr 5:105,197,857...105,200,148
G
Rps9
ribosomal protein S9
IEP
RGD
PMID:501300
RGD:11040911
NCBI chr 1:64,086,625...64,090,023
Ensembl chr 1:64,018,125...64,090,021
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16757304
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Panx1
Pannexin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29246445
NCBI chr 8:13,567,185...13,606,040
Ensembl chr 8:13,566,739...13,606,040
G
Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224054
NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
G
Tfam
transcription factor A, mitochondrial
ISO
ClinVar Annotator: match by OMIM:617156
ClinVar OMIM
PMID:27448789
NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
G
Dguok
deoxyguanosine kinase
ISO IMP
ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 3
OMIM ClinVar
PMID:9175742 PMID:11687800 PMID:11983456 PMID:12205643 PMID:12210798 PMID:15887277 PMID:16908739 PMID:17073823 PMID:17452231 PMID:22622127 PMID:23043144 PMID:25131622 PMID:25326637 PMID:25741868 PMID:26874653 PMID:28492532 , PMID:30404003 , PMID:31127938
RGD:15039296 , RGD:15039214
NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
G
Mpv17
mitochondrial inner membrane protein MPV17
ISS
OMIM:251880
MouseDO
NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
G
Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
ClinVar
PMID:17722119
NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
G
Bad
BCL2-associated agonist of cell death
treatment
IDA
RGD
PMID:22151301
RGD:10053671
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
G
Il1b
interleukin 1 beta
treatment
IDA
RGD
PMID:22955229
RGD:8655911
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Vegfa
vascular endothelial growth factor A
treatment
IMP
RGD
PMID:22151301
RGD:10053671
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Trmu
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
ISO
ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar Annotator: match by OMIM:613070
OMIM ClinVar
PMID:8817331 PMID:19732863 PMID:21153446 PMID:21169334 PMID:21931168 PMID:23625533 PMID:25326635 PMID:25326637 PMID:25665837 PMID:25741868 PMID:26633542 PMID:28049726 PMID:28492532 PMID:28973083 PMID:30369941 PMID:30740308
NCBI chr 7:126,756,140...126,772,749
Ensembl chr 7:126,756,151...126,772,749
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