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: Acute Liver Failure
Accession: DOID:9004590
browse the term
Definition: A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C.
Synonyms: exact_synonym: Acute Hepatic Failure; Fulminant Hepatic Failure; Fulminant Hepatic Failures; Fulminant Liver Failure; Fulminant Liver Failures; Fulminating Hepatic Failure; Fulminating Hepatic Failures; Fulminating Liver Failure; Fulminating Liver Failures; acute liver injury
narrow_synonym: Recurrent Acute Liver Failure
primary_id: MESH:D017114
alt_id: RDO:0000601
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Abcc2
ATP binding cassette subfamily C member 2
IEP
RGD
PMID:16899240
RGD:1598605
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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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 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16750869 PMID:18609519
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Anp32a
acidic nuclear phosphoprotein 32 family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr 8:62,829,099...62,865,443
Ensembl chr 8:62,827,456...62,865,443
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Apoc2
apolipoprotein C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Ass1
argininosuccinate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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Atm
ATM serine/threonine kinase
treatment
IEP ISO
RGD
PMID:24565947 PMID:21224054
RGD:10053604 , RGD:10053606
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp7b
ATPase copper transporting beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25134866
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Brip1
BRCA1 interacting helicase 1
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:24748974
RGD:10755718
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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Casp12
caspase 12
treatment
IEP
RGD
PMID:26238033
RGD:13782174
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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Casp3
caspase 3
treatment
IEP
RGD
PMID:26238033
RGD:13782174
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8
caspase 8
treatment
ISO
RGD
PMID:12810955
RGD:14695025
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Casp9
caspase 9
treatment
IEP
RGD
PMID:26238033
RGD:13782174
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cast
calpastatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16871587
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:serum:
RGD
PMID:19247846
RGD:14995923
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccl3
C-C motif chemokine ligand 3
ISO
protein, mRNA:increased expression:serum, liver
RGD
PMID:12579535
RGD:14995451
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccl4
C-C motif chemokine ligand 4
ISO
protein, mRNA:increased expression:serum, liver
RGD
PMID:12579535
RGD:14995451
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccl5
C-C motif chemokine ligand 5
ISO
protein, mRNA:increased expression:liver
RGD
PMID:12579535
RGD:14995451
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cd14
CD14 molecule
IEP
mRNA:increased expression:liver
RGD
PMID:18070011
RGD:4144156
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd74
CD74 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799971
NCBI chr18:54,256,757...54,266,003
Ensembl chr18:54,256,778...54,266,003
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Col1a2
collagen type I alpha 2 chain
IEP
RGD
PMID:11786959
RGD:7257539
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Csf3
colony stimulating factor 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21550386 PMID:18756972 PMID:21550386
RGD:11039421 , RGD:11039537
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:23227188
RGD:27095895
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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F5
coagulation factor V
severity
ISO
protein:altered expression (human)
RGD
PMID:1740285
RGD:14700653
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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F7
coagulation factor VII
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fabp1
fatty acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
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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 RGD
PMID:12828076 PMID:10950056 PMID:28060213 PMID:25601293 PMID:25601293
RGD:14700697 , RGD:14700678 , RGD:14700667 , RGD:14700667
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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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 RGD
PMID:19505222 PMID:10950056 PMID:18946736 PMID:16279913
RGD:14700697 , RGD:14700674 , RGD:14401578
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fbp1
fructose-bisphosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071
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Fbp2
fructose-bisphosphatase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr17:2,236,088...2,253,702
Ensembl chr17:2,236,336...2,253,698
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Fga
fibrinogen alpha chain
treatment
IDA
RGD
PMID:24799907
RGD:11040538
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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Fst
follistatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12560755
NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
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Gc
GC, vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8666322 PMID:17852808
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gfer
growth factor, augmenter of liver regeneration
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:15968720 PMID:23337881
RGD:9685775
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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Gpnmb
glycoprotein nmb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15763343
NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367
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Gpt
glutamic--pyruvic transaminase
ISO
protein:increased expression:blood
RGD
PMID:28513770
RGD:14975169
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Gsn
gelsolin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:9142022
RGD:329333022
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12479984
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hist1h4m
histone cluster 1, H4m
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr17:42,698,016...42,698,420
Ensembl chr17:42,698,025...42,698,958
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Hspa8
heat shock protein family A (Hsp70) member 8
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:15270078
RGD:4891447
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Il10
interleukin 10
ISO
DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human)
RGD
PMID:30109600
RGD:14975142
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1rn
interleukin 1 receptor antagonist
ISO
rat model treated with human gene-expressing stem cells CTD Direct Evidence: therapeutic
CTD RGD
PMID:20644519 PMID:22844472
RGD:6909176
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
treatment
IDA
RGD
PMID:27085796
RGD:11062151
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Inhba
inhibin subunit beta A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12560755
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Ins1
insulin 1
IEP
mRNA:increased expression:pancreatic islet
RGD
PMID:17097861
RGD:2298712
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12639207
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
IEP
mRNA, protein:decreased expression:cerebral cortex
RGD
PMID:21538466
RGD:8662894
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
mRNA:increased expression:liver:
RGD
PMID:10385646
RGD:12910730
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Krt18
keratin 18
ISO
CTD Direct Evidence: marker/mechanism protein:increased degradation:serum (human)
CTD RGD
PMID:20538000 PMID:17847110
RGD:18337491
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Krt8
keratin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20538000
NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
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Ldha
lactate dehydrogenase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472
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Lrp1
LDL receptor related protein 1
ISO
associated with Carbon Tetrachloride Poisoning
RGD
PMID:26237273
RGD:13800515
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Ltc4s
leukotriene C4 synthase
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:18461660
RGD:2302283
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17185352
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mdh1
malate dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
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Met
MET proto-oncogene, receptor tyrosine kinase
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:17009398
RGD:2317515
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Milr1
mast cell immunoglobulin-like receptor 1
ISO
ClinVar Annotator: match by term: Acute hepatic failure
ClinVar
PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269
NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:24895202
RGD:14401602
NCBI chr18:58,758,703...58,758,787
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Mir221
microRNA 221
treatment
ISO
RGD
PMID:21400558
RGD:18337268
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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Mir223
microRNA 223
disease_progression
ISO
RNA:increased expression:serum,liver
RGD
PMID:28646120 PMID:25562161
RGD:21408574 , RGD:21408585
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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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 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 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 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
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Nos2
nitric oxide synthase 2
IEP
protein:increased activity:liver (rat)
RGD
PMID:22001939
RGD:5509102
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
IEP
mRNA, protein:increased expression:liver
RGD
PMID:17276928
RGD:2292148
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Panx1
Pannexin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29246445
NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774
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Polg2
DNA polymerase gamma 2, accessory subunit
ISO
ClinVar Annotator: match by term: Acute hepatic failure
ClinVar
PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269
NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15313186
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Psmd11
proteasome 26S subunit, non-ATPase 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr10:65,433,853...65,479,774
Ensembl chr10:65,433,853...65,479,766
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Ptafr
platelet-activating factor receptor
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:11414308
RGD:10043144
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
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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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Qdpr
quinoid dihydropteridine reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
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Rida
reactive intermediate imine deaminase A homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35172013
NCBI chr 7:65,691,429...65,705,257
Ensembl chr 7:65,691,435...65,705,716
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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 PMID:32283892 PMID:33099839 More...
NCBI chr 4:11,319,416...11,355,740
Ensembl chr 4:11,320,955...11,355,736
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Sco1
synthesis of cytochrome C oxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20864674
NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
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Serpinc1
serpin family C member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:4089794 PMID:22563168
RGD:11035263
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Thbd
thrombomodulin
IEP
protein:increased expression:serum
RGD
PMID:11882417
RGD:1601654
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tlr4
toll-like receptor 4
treatment
IEP IMP
mRNA:increased expression:liver
RGD
PMID:18070011 PMID:20546456
RGD:4144156 , RGD:14700555
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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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 RGD
PMID:19505222 PMID:18070011 PMID:10979906 PMID:18946736 PMID:12960499
RGD:4144156 , RGD:14995442 , RGD:14700674 , RGD:10450538
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ucp2
uncoupling protein 2
IEP
mRNA:increased expression:liver
RGD
PMID:21272461
RGD:7175313
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
treatment
ISO
RGD
PMID:29574133
RGD:14402051
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum:
RGD
PMID:19247846
RGD:14995923
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:serum:
RGD
PMID:19247846
RGD:14995923
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Cd163
CD163 molecule
exacerbates
ISO
associated with Chronic Hepatitis B;protein:increased expression:blood plasma (human)
RGD
PMID:23687420
RGD:127285680
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cxcl10
C-X-C motif chemokine ligand 10
susceptibility
ISO
associated with liver cirrhosis;
RGD
PMID:29105936
RGD:27095953
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
protein:hypophosphorylation:liver:
RGD
PMID:26234401
RGD:32716425
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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Ern1
endoplasmic reticulum to nucleus signaling 1
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, liver:
RGD
PMID:21489307
RGD:38549358
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gfer
growth factor, augmenter of liver regeneration
disease_progression
ISO
RGD
PMID:22246190
RGD:9685741
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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Hmgb1
high mobility group box 1
treatment
IMP
RGD
PMID:23591781
RGD:10402084
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Il1rl1
interleukin 1 receptor-like 1
disease_progression
ISO
associated with hepatitis B;
RGD
PMID:28381383
RGD:39938857
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il21
interleukin 21
ameliorates
ISO
associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human)
RGD
PMID:21692955
RGD:127285541
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il27
interleukin 27
ISO
associated with hepatitis B;protein:increased expression:blood serum (human)
RGD
PMID:23890319 PMID:31198792
RGD:126790526 , RGD:126790529
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Mir146a
microRNA 146a
susceptibility
ISO
associated with hepatitis B;miRNA:SNP: (rs2910164) (human)
RGD
PMID:23292505
RGD:126925160
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Ppp1r15a
protein phosphatase 1, regulatory subunit 15A
ISO
mRNA,protein:increased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
associated with Chronic Hepatitis B;mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:30996211
RGD:127229914
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Tlr3
toll-like receptor 3
susceptibility
ISO
associated with Hepatitis B, Chronic; DNA:SNP: :1234C>T (human)
RGD
PMID:23076446
RGD:21079425
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
treatment
IEP
RGD
PMID:23591781
RGD:10402084
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Xbp1
X-box binding protein 1
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Nbas
NBAS subunit of NRZ tethering complex
ISO
ClinVar Annotator: match by term: Infantile liver failure syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:26073778 PMID:26541327 PMID:27789416 PMID:28031453 PMID:28492532 PMID:31761904 More...
NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
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Trmu
tRNA mitochondrial 2-thiouridylase
ISO
DNA:mutations:multiple
RGD
PMID:19732863
RGD:25440486
NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355
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Lars1
leucyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Infantile liver failure syndrome 1 | ClinVar Annotator: match by term: LARS1-related condition
OMIM ClinVar
PMID:22607940 PMID:25051973 PMID:25326635 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30349989 PMID:32699352 PMID:33726816 PMID:34023347 PMID:34194004 PMID:36135330 More...
NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931
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Nbas
NBAS subunit of NRZ tethering complex
ISO
ClinVar Annotator: match by term: Fever-associated acute infantile liver failure syndrome | ClinVar Annotator: match by term: Infantile liver failure syndrome 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26073778 PMID:26286438 PMID:26541327 PMID:26578240 PMID:27789416 PMID:28031453 PMID:28252636 PMID:28410752 PMID:28492532 PMID:28576691 PMID:30558828 PMID:30825388 PMID:31761904 PMID:31964843 PMID:32313153 PMID:32768688 PMID:32805445 PMID:32812336 PMID:33042920 PMID:34298581 PMID:34386911 PMID:34396667 PMID:34906502 PMID:35433172 More...
NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
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Efcab10
EF-hand calcium binding domain 10
ISO
ClinVar Annotator: match by term: Infantile liver failure syndrome 3
ClinVar
PMID:24033266 PMID:25050558 PMID:25741868 PMID:26787654 PMID:28492532
NCBI chr 6:50,004,479...50,011,398
Ensembl chr 6:50,004,479...50,011,398
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Rint1
RAD50 interactor 1
ISO
ClinVar Annotator: match by term: Infantile liver failure syndrome 3
OMIM ClinVar
PMID:24033266 PMID:25050558 PMID:25741868 PMID:26787654 PMID:27544226 PMID:28492532 PMID:31204009 PMID:32283892 PMID:33099839 More...
NCBI chr 4:11,319,416...11,355,740
Ensembl chr 4:11,320,955...11,355,736
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Panx1
Pannexin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29246445
NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224054
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Lars1
leucyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT
ClinVar
PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650
NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931
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Mmut
methylmalonyl-CoA mutase
ISO
ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT
ClinVar
PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 PMID:35281663 More...
NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
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Nbas
NBAS subunit of NRZ tethering complex
ISO
ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 PMID:26286438 PMID:26541327 PMID:26578240 PMID:27789416 PMID:28031453 PMID:28252636 PMID:28410752 PMID:28492532 PMID:28576691 PMID:29095814 PMID:30592236 PMID:30825388 PMID:31216810 PMID:31761904 PMID:31964843 PMID:32812336 PMID:33042920 PMID:34906502 PMID:35433172 More...
NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT
ClinVar
PMID:19442771 PMID:19732863 PMID:21931168 PMID:23456818 PMID:25741868 PMID:26373788 PMID:30067075 PMID:37272928 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Trmu
tRNA mitochondrial 2-thiouridylase
ISO
ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition
OMIM ClinVar
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 PMID:21153446 PMID:21169334 PMID:21931168 PMID:23625533 PMID:25326635 PMID:25326637 PMID:25665837 PMID:25741868 PMID:26633542 PMID:28049726 PMID:28252636 PMID:28492532 PMID:28973083 PMID:30369941 PMID:30740308 PMID:31160058 PMID:32445240 PMID:33365252 PMID:33485800 PMID:34052969 PMID:36305855 PMID:38113276 More...
NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355
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