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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


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 chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442 		JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		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 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		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 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Atp7b ATPase copper transporting beta ISO
IAGP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25134866 PMID:8291609 RGD:15036817 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP RGD PMID:8291609 RGD:15036817
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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
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 		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
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G 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 		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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G 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 		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 chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr18:58,758,703...58,758,787 JBrowse link
G 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 		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:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		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
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G 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 		JBrowse link
G 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 		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 4:11,319,416...11,355,740
Ensembl chr 4:11,320,955...11,355,736 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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
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 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		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 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121 		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 chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G 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 		JBrowse link
G 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 		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: GFM1-related condition | ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 More... NCBI chr 2:151,700,573...151,745,477
Ensembl chr 2:151,700,564...151,745,471 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:28492532 PMID:29075935 NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197 		JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994 		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 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202 		JBrowse link
G Ifnl3 interferon, lambda 3 treatment ISO DNA:SNPs:5'utr: (rs12979860, rs8099917) (human) RGD PMID:25130512 RGD:40400912 NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096 		JBrowse link
G Lep leptin IEP protein:decreased expression:serum (human) RGD PMID:9640405 RGD:25330350 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment IMP RGD PMID:23874752 RGD:8661754 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450 		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, sub-family B member 1B IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA,protein:increased expression:brain, liver,serum: RGD PMID:29518527 RGD:14995926 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Epor erythropoietin receptor IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		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
RGD		 PMID:15929193 PMID:15929193 RGD:6480237 NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 IEP
ISO		 mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15929193 PMID:15929193 RGD:6480237 NCBI chr14:36,068,725...36,548,946
Ensembl chr14:36,080,393...36,548,948 		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
RGD		 PMID:15929193 PMID:15929193 RGD:6480237 NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Gc GC, vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11510020 PMID:11521994 RGD:5509929 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Glul glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23670786 RGD:10766445 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Insr insulin receptor IEP protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767 PMID:10206825 PMID:10564534 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP
ISO		 protein:increased expression:neocortex
CTD Direct Evidence: marker/mechanism
protein:increased expression:brain		 CTD
RGD		 PMID:10206825 PMID:10564534 PMID:17083474 PMID:19763802 RGD:1642151, RGD:5132590 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G 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 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP RGD PMID:21575628 RGD:5688266 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G S100b S100 calcium binding protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:34792689 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30940161 RGD:14995440 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 PMID:16338762 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825 PMID:10564534 NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450 		JBrowse link
infantile liver failure syndrome 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 ClinVar PMID:24033266 PMID:25741868 PMID:26073778 PMID:26541327 PMID:27789416 More... NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		JBrowse link
G 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 		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 chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931 		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: 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 chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		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 chr 6:50,004,479...50,011,398
Ensembl chr 6:50,004,479...50,011,398 		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 4:11,319,416...11,355,740
Ensembl chr 4:11,320,955...11,355,736 		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 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Arg1 arginase 1 IEP mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase IEP mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 IEP mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Atg7 autophagy related 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26483381 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593 		JBrowse link
G Cd163 CD163 molecule ISO associated with hepatitis B;protein:increased expression:liver, peripheral blood mononuclear cell (human)
protein:increased expression:blood serum (human)		 RGD PMID:24597777 PMID:26339412 RGD:127285684, RGD:11251207 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		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 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G F2 coagulation factor II, thrombin severity ISO CTD Direct Evidence: marker/mechanism
associated with liver cirrhosis;protein:increased expression:blood plasma (human)		 CTD
RGD		 PMID:18618250 PMID:7615203 RGD:14974253 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fah fumarylacetoacetate hydrolase IMP RGD PMID:27510266 RGD:14398823 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 disease_progression ISO mRNA:decreased expression:liver (human) RGD PMID:24583248 RGD:14695536 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Il18 interleukin 18 treatment IEP RGD PMID:23155311 RGD:8655993 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18256743 NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154 		JBrowse link
G Otc ornithine transcarbamylase IEP mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Rps10 ribosomal protein S10 IEP RGD PMID:501300 RGD:11040911 NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044 		JBrowse link
G Rps6 ribosomal protein S6 IEP RGD PMID:501300 RGD:11040911 NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602 		JBrowse link
G Rps9 ribosomal protein S9 IEP RGD PMID:501300 RGD:11040911 NCBI chr 1:65,511,723...65,515,076
Ensembl chr 1:65,511,723...65,515,123 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: therapeutic CTD PMID:16757304 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774 		JBrowse link
G 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 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ClinVar PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 More... NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27448789 PMID:28492532 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		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 type) | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9175742 PMID:9536098 PMID:11687800 PMID:11983456 PMID:12205643 More... RGD:15039296, RGD:15039214 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:251880 MouseDO NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		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 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Il1b interleukin 1 beta treatment IDA RGD PMID:22955229 RGD:8655911 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment IMP RGD PMID:22151301 RGD:10053671 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931 		JBrowse link
G 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 More... NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G 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 More... NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase 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 chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        liver disease 2958
          Hepatic Insufficiency 161
            Liver Failure + 153
            Small-For-Size Syndrome 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      gastrointestinal system disease 7095
        hepatobiliary disease 3069
          liver disease 2958
            Hepatic Insufficiency 161
              Liver Failure + 153
              Small-For-Size Syndrome 3
paths to the root