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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Acute Liver Failure
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Accession:DOID:9004590 term browser 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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Acute Liver Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP-binding cassette, sub-family member 2 ISO RGD PMID:16899240 RGD:1598605 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G 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 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16750869 PMID:18609519 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr 9:62,248,637...62,286,084
Ensembl chr 9:62,248,575...62,286,094 		JBrowse link
G Apoc2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866 		JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr 2:31,360,282...31,410,682
Ensembl chr 2:31,360,219...31,410,684 		JBrowse link
G Atm ataxia telangiectasia mutated treatment ISO
IEP		 RGD PMID:24565947 PMID:21224054 RGD:10053604, RGD:10053606 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25134866 PMID:8291609 RGD:15036817 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:24748974 RGD:10755718 NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Casp12 caspase 12 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Casp8 caspase 8 treatment IMP RGD PMID:12810955 RGD:14695025 NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662 		JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287 		JBrowse link
G Cast calpastatin ISO CTD Direct Evidence: therapeutic CTD PMID:16871587 NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929 		JBrowse link
G 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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO protein, mRNA:increased expression:serum, liver RGD PMID:12579535 RGD:14995451 NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein, mRNA:increased expression:serum, liver RGD PMID:12579535 RGD:14995451 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein, mRNA:increased expression:liver RGD PMID:12579535 RGD:14995451 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		JBrowse link
G Cd14 CD14 antigen ISO mRNA:increased expression:liver RGD PMID:18070011 RGD:4144156 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851 		JBrowse link
G Cd74 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799971 NCBI chr18:60,936,921...60,945,724
Ensembl chr18:60,936,920...60,945,724 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO RGD PMID:11786959 RGD:7257539 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21550386 PMID:18756972 PMID:21550386 RGD:11039421, RGD:11039537 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment IEP RGD PMID:23227188 RGD:27095895 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G F5 coagulation factor V severity ISO protein:altered expression (human) RGD PMID:1740285 RGD:14700653 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G Fabp1 fatty acid binding protein 1, liver ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr 6:71,176,863...71,182,018
Ensembl chr 6:71,176,811...71,182,007 		JBrowse link
G Fas Fas cell surface death receptor treatment ISO
IMP
IEP		 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 chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand ISO
IEP		 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 chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Fbp1 fructose bisphosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr13:63,012,567...63,036,112
Ensembl chr13:63,012,567...63,036,096 		JBrowse link
G Fbp2 fructose bisphosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr13:62,984,698...63,006,214
Ensembl chr13:62,984,691...63,006,236 		JBrowse link
G Fga fibrinogen alpha chain treatment ISO RGD PMID:24799907 RGD:11040538 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fst follistatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chr13:114,588,798...114,595,522
Ensembl chr13:114,588,826...114,595,487 		JBrowse link
G Gc vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8666322 PMID:17852808 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:15968720 PMID:23337881 RGD:9685775 NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,130 		JBrowse link
G Gpnmb glycoprotein (transmembrane) nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:15763343 NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863 		JBrowse link
G Gpt glutamic pyruvic transaminase, soluble ISO protein:increased expression:blood RGD PMID:28513770 RGD:14975169 NCBI chr15:76,580,926...76,583,875
Ensembl chr15:76,579,916...76,583,886 		JBrowse link
G Gsn gelsolin ISO protein:decreased expression:blood serum (human) RGD PMID:9142022 RGD:329333022 NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904 		JBrowse link
G H4c1 H4 clustered histone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr13:23,944,778...23,945,232
Ensembl chr13:23,944,675...23,945,213 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:12479984 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Hspa8 heat shock protein 8 ISO mRNA:increased expression:liver (rat) RGD PMID:15270078 RGD:4891447 NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) RGD PMID:30109600 RGD:14975142 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G 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 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:27085796 RGD:11062151 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Inhba inhibin beta-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206 		JBrowse link
G Ins1 insulin I ISO mRNA:increased expression:pancreatic islet RGD PMID:17097861 RGD:2298712 NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914 		JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:12639207 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:21538466 RGD:8662894 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA:increased expression:liver: RGD PMID:10385646 RGD:12910730 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Krt18 keratin 18 ISO CTD Direct Evidence: marker/mechanism
protein:increased degradation:serum (human)		 CTD
RGD		 PMID:20538000 PMID:17847110 RGD:18337491 NCBI chr15:101,936,651...101,940,461
Ensembl chr15:101,936,615...101,940,462 		JBrowse link
G Krt8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20538000 NCBI chr15:101,905,146...101,912,777
Ensembl chr15:101,905,133...101,912,917 		JBrowse link
G Ldha lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr 7:46,491,698...46,505,051
Ensembl chr 7:46,490,899...46,505,051 		JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IMP associated with Carbon Tetrachloride Poisoning RGD PMID:26237273 RGD:13800515 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18461660 RGD:2302283 NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17185352 NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G Mdh1 malate dehydrogenase 1, NAD (soluble) ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr11:21,506,692...21,521,934
Ensembl chr11:21,506,692...21,522,367 		JBrowse link
G Met met proto-oncogene ISO mRNA:increased expression:liver (rat) RGD PMID:17009398 RGD:2317515 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G 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 chr11:106,641,472...106,659,620
Ensembl chr11:106,642,052...106,659,620 		JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr18:65,381,932...65,381,997
Ensembl chr18:65,381,932...65,381,997 		JBrowse link
G Mir221 microRNA 221 treatment IDA RGD PMID:21400558 RGD:18337268 NCBI chr  X:19,012,533...19,012,627
Ensembl chr  X:19,012,533...19,012,627 		JBrowse link
G Mir223 microRNA 223 disease_progression ISO
IEP		 RNA:increased expression:serum,liver RGD PMID:28646120 PMID:25562161 RGD:21408574, RGD:21408585 NCBI chr  X:95,286,423...95,286,532
Ensembl chr  X:95,286,423...95,286,532 		JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial disease_progression IMP associated with Endotoxemia RGD PMID:21167184 RGD:5490296 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G Nbas neuroblastoma amplified sequence ISO DNA:mutations:multiple RGD PMID:26541327 RGD:25671408 NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased activity:liver (rat) RGD PMID:22001939 RGD:5509102 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO mRNA, protein:increased expression:liver RGD PMID:17276928 RGD:2292148 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Panx1 pannexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29246445 NCBI chr 9:14,917,081...14,956,774
Ensembl chr 9:14,913,424...14,956,774 		JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Acute hepatic failure ClinVar PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269 NCBI chr11:106,659,030...106,670,363
Ensembl chr11:106,659,079...106,670,363 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15313186 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Psmd11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr11:80,319,441...80,364,074
Ensembl chr11:80,319,441...80,364,074 		JBrowse link
G Ptafr platelet-activating factor receptor ISO mRNA:increased expression:liver (rat) RGD PMID:11414308 RGD:10043144 NCBI chr 4:132,291,378...132,309,994
Ensembl chr 4:132,291,378...132,309,994 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity ISO human gene in mouse model RGD PMID:18336855 PMID:19017995 RGD:2300286, RGD:14695009 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr 5:45,591,374...45,607,571
Ensembl chr 5:45,591,363...45,607,578 		JBrowse link
G Rida reactive intermediate imine deaminase A homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:35172013 NCBI chr15:34,484,168...34,495,392
Ensembl chr15:34,484,167...34,495,401 		JBrowse link
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Fulminant hepatic failure ClinVar PMID:25050558 PMID:25741868 PMID:28492532 PMID:31204009 PMID:32283892 More... NCBI chr 5:23,992,700...24,028,582
Ensembl chr 5:23,992,709...24,025,367 		JBrowse link
G Sco1 SCO1 cytochrome c oxidase assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864674 NCBI chr11:66,943,473...66,958,270
Ensembl chr11:66,943,496...66,957,896 		JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:4089794 PMID:22563168 RGD:11035263 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:11882417 RGD:1601654 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Tlr4 toll-like receptor 4 treatment ISO mRNA:increased expression:liver RGD PMID:18070011 PMID:20546456 RGD:4144156, RGD:14700555 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnf tumor necrosis factor treatment
severity		 ISO mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)		 CTD
RGD		 PMID:19505222 PMID:18070011 PMID:12960499 PMID:18946736 PMID:10979906 RGD:4144156, RGD:10450538, RGD:14700674, RGD:14995442 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO mRNA:increased expression:liver RGD PMID:21272461 RGD:7175313 NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 treatment IEP RGD PMID:29574133 RGD:14402051 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719 		JBrowse link
Acute-On-Chronic Liver Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888 		JBrowse link
G Cd163 CD163 antigen exacerbates ISO associated with Chronic Hepatitis B;protein:increased expression:blood plasma (human) RGD PMID:23687420 RGD:127285680 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 susceptibility ISO associated with liver cirrhosis; RGD PMID:29105936 RGD:27095953 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO Chronic hepatitis B; protein:increased expression:liver, plasma (human)
associated with liver cirrhosis;protein:increased expression:plasma (human)		 RGD PMID:27974825 PMID:29476704 RGD:26884362, RGD:26884367 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:hypophosphorylation:liver: RGD PMID:26234401 RGD:32716425 NCBI chr 6:70,821,468...70,882,225
Ensembl chr 6:70,821,499...70,882,229 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signalling 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678 		JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: RGD PMID:21489307 RGD:38549358 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration disease_progression ISO RGD PMID:22246190 RGD:9685741 NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,130 		JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 disease_progression ISO associated with hepatitis B; RGD PMID:28381383 RGD:39938857 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il21 interleukin 21 ameliorates ISO associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) RGD PMID:21692955 RGD:127285541 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
G 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 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Mir146 microRNA 146 susceptibility ISO associated with hepatitis B;miRNA:SNP: (rs2910164) (human) RGD PMID:23292505 RGD:126925160 NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288 		JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISO mRNA,protein:increased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr 7:45,172,341...45,175,692
Ensembl chr 7:45,172,340...45,175,692 		JBrowse link
G 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 chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322 		JBrowse link
G Tlr3 toll-like receptor 3 susceptibility ISO associated with Hepatitis B, Chronic; DNA:SNP: :1234C>T (human) RGD PMID:23076446 RGD:21079425 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117 		JBrowse link
G Tlr4 toll-like receptor 4 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Xbp1 X-box binding protein 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893 		JBrowse link
infantile liver failure syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas neuroblastoma amplified sequence ISO ClinVar Annotator: match by term: Infantile liver failure syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26073778 PMID:26541327 PMID:27789416 More... NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812 		JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO DNA:mutations:multiple RGD PMID:19732863 RGD:25440486 NCBI chr15:85,763,505...85,781,595
Ensembl chr15:85,763,513...85,781,595 		JBrowse link
infantile liver failure syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars1 leucyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile liver failure syndrome 1 | ClinVar Annotator: match by term: LARS1-related condition		 OMIM
CTD
ClinVar		 PMID:22607940 PMID:25051973 PMID:25326635 PMID:25741868 PMID:26467025 More... NCBI chr18:42,335,363...42,395,302
Ensembl chr18:42,335,363...42,395,259 		JBrowse link
Infantile Liver Failure Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas neuroblastoma amplified sequence ISO ClinVar Annotator: match by term: Fever-associated acute infantile liver failure syndrome | ClinVar Annotator: match by term: Infantile liver failure syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812 		JBrowse link
Infantile Liver Failure Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr12:33,444,824...33,451,268
Ensembl chr12:33,444,853...33,451,266 		JBrowse link
G 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 More... NCBI chr 5:23,992,700...24,028,582
Ensembl chr 5:23,992,709...24,025,367 		JBrowse link
Massive Hepatic Necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Panx1 pannexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29246445 NCBI chr 9:14,917,081...14,956,774
Ensembl chr 9:14,913,424...14,956,774 		JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099 		JBrowse link
transient infantile liver failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr18:42,335,363...42,395,302
Ensembl chr18:42,335,363...42,395,259 		JBrowse link
G Mmut methylmalonyl-Coenzyme A mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chr17:41,245,576...41,272,880
Ensembl chr17:41,245,576...41,272,879 		JBrowse link
G Nbas neuroblastoma amplified sequence ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 PMID:26286438 More... NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812 		JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr15:85,763,505...85,781,595
Ensembl chr15:85,763,513...85,781,595 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      endocrine system disease 6290
        liver disease 2939
          Hepatic Insufficiency 160
            Liver Failure 152
              Acute Liver Failure 101
                Acute-On-Chronic Liver Failure 19
                Massive Hepatic Necrosis 2
                infantile liver failure syndrome + 5
                transient infantile liver failure 4
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      gastrointestinal system disease 6748
        hepatobiliary disease 3053
          liver disease 2939
            Hepatic Insufficiency 160
              Liver Failure 152
                Acute Liver Failure 101
                  Acute-On-Chronic Liver Failure 19
                  Massive Hepatic Necrosis 2
                  infantile liver failure syndrome + 5
                  transient infantile liver failure 4
paths to the root