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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:Hepatic Insufficiency
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Accession:DOID:9004250 term browser 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.

show annotations for term's descendants           Sort by:
 
Hepatic Insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Acute Liver Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		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 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP RGD PMID:8291609 RGD:15036817
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr18:60,755,285...60,755,369 JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 NCBI chr 4:7,851,602...7,885,446
Ensembl chr 4:7,852,224...7,885,301 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		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:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		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 chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214 		JBrowse link
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 		JBrowse link
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 		JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
End Stage Liver Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
hepatic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
infantile liver failure syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		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 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 		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 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 		JBrowse link
Infantile Liver Failure Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
Liver Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		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 8:13,567,185...13,606,040
Ensembl chr 8:13,566,739...13,606,040 		JBrowse link
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 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
Small-For-Size Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
transient infantile liver failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        liver disease 2417
          Hepatic Insufficiency 138
            Liver Failure + 130
            Small-For-Size Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      gastrointestinal system disease 4690
        hepatobiliary disease 2511
          liver disease 2417
            Hepatic Insufficiency 138
              Liver Failure + 130
              Small-For-Size Syndrome 3
paths to the root