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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:Liver Failure
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Accession:DOID:9007874 term browser browse the term
Definition:Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)
Synonyms:exact_synonym: Hepatic Failure
 primary_id: MESH:D017093
For additional species annotation, visit the Alliance of Genome Resources.


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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 chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Arg1 arginase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Asl argininosuccinate lyase ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chrNW_004955456:8,409,767...8,419,915 JBrowse link
G Ass1 argininosuccinate synthase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO mRNA:decreased expression:liver (rat)
mRNA:increased expression:liver (rat)
RGD PMID:8836904 PMID:11779202 RGD:4140432 RGD:70249 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 disease_progression ISO associated with transient myeloproliferative syndrome and Down syndrome;protein:increased expression:serum (human) RGD PMID:30314728 RGD:26884360 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G F2 coagulation factor II, thrombin severity ISO associated with liver cirrhosis;protein:increased expression:blood plasma (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7615203 PMID:18618250 RGD:14974253 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO RGD PMID:27510266 RGD:14398823 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 disease_progression ISO mRNA:decreased expression:liver (human) RGD PMID:24583248 RGD:14695536 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:23155311 RGD:8655993 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18256743 NCBI chrNW_004955419:13,262,119...13,264,986 JBrowse link
G Otc ornithine transcarbamylase ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Rps10 ribosomal protein S10 ISO RGD PMID:501300 RGD:11040911 NCBI chrNW_004955437:2,600,219...2,604,821 JBrowse link
G Rps6 ribosomal protein S6 ISO RGD PMID:501300 RGD:11040911 NCBI chrNW_004955434:21,744,045...21,745,646
Ensembl chrNW_004955434:21,744,082...21,746,626
JBrowse link
G Rps9 ribosomal protein S9 ISO RGD PMID:501300 RGD:11040911 NCBI chrNW_004955604:73,593...76,414
Ensembl chrNW_004955604:73,593...76,414
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: therapeutic CTD PMID:16757304 NCBI chrNW_004955437:9,527,445...9,541,908 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 ISO RGD PMID:16899240 RGD:1598605 NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16750869 PMID:18609519 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Atm ATM serine/threonine kinase treatment ISO RGD PMID:21224054 PMID:24565947 RGD:10053604 RGD:10053606 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8291609 PMID:25134866 RGD:15036817 NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:24748974 RGD:10755718 NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp8 caspase 8 treatment ISO RGD PMID:12810955 RGD:14695025 NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
JBrowse link
G Cast calpastatin ISO CTD Direct Evidence: therapeutic CTD PMID:16871587 NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein, mRNA:increased expression:liver RGD PMID:12579535 RGD:14995451 NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
JBrowse link
G Cd14 CD14 molecule ISO mRNA:increased expression:liver RGD PMID:18070011 RGD:4144156 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
JBrowse link
G Cd74 CD74 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799971 NCBI chrNW_004955415:4,129,151...4,138,336
Ensembl chrNW_004955415:4,129,254...4,137,826
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:11786959 RGD:7257539 NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:18756972 PMID:21550386 RGD:11039421 RGD:11039537 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:23227188 RGD:27095895 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
JBrowse link
G F5 coagulation factor V severity ISO protein:altered expression (human) RGD PMID:1740285 RGD:14700653 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
JBrowse link
G Fas Fas cell surface death receptor treatment ISO protein:increased expression:hepatocyte:
mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10950056 PMID:12828076 PMID:25601293 PMID:28060213 RGD:14700667 RGD:14700678 RGD:14700697 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:liver:
mRNA:increased expression:liver
mRNA, protein:increased expression:liver, lymphocyte, serum:
CTD
RGD
PMID:10950056 PMID:16279913 PMID:18946736 PMID:19505222 RGD:14401578 RGD:14700674 RGD:14700697 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
JBrowse link
G Fga fibrinogen alpha chain treatment ISO RGD PMID:24799907 RGD:11040538 NCBI chrNW_004955471:8,806,964...8,814,671
Ensembl chrNW_004955471:8,806,650...8,816,791
JBrowse link
G Fst follistatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chrNW_004955446:13,925,833...13,932,104
Ensembl chrNW_004955446:13,925,776...13,932,104
JBrowse link
G Gc GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8666322 PMID:17852808 NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491
JBrowse link
G Gfer growth factor, augmenter of liver regeneration treatment ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:15968720 PMID:23337881 RGD:9685775 NCBI chrNW_004955442:15,280,753...15,283,405
Ensembl chrNW_004955442:15,281,419...15,283,266
JBrowse link
G Gpnmb glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:15763343 NCBI chrNW_004955410:25,554,279...25,583,368
Ensembl chrNW_004955410:25,553,973...25,582,500
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO protein:increased expression:blood RGD PMID:28513770 RGD:14975169 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:12479984 NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO mRNA:increased expression:liver (rat) RGD PMID:15270078 RGD:4891447 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984
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 chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human gene-expressing stem cells
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:20644519 PMID:22844472 RGD:6909176 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:27085796 RGD:11062151 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Inhba inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chrNW_004955460:2,054,879...2,066,628
Ensembl chrNW_004955460:2,046,588...2,066,609
JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12639207 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
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 chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365
JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:increased expression:liver: RGD PMID:10385646 RGD:12910730 NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
JBrowse link
G Krt18 keratin 18 ISO CTD Direct Evidence: marker/mechanism
protein:increased degradation:serum (human)
CTD
RGD
PMID:17847110 PMID:20538000 RGD:18337491 NCBI chrNW_004955458:227,017...230,752
Ensembl chrNW_004955458:226,805...232,728
JBrowse link
G Krt8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20538000 NCBI chrNW_004955458:178,954...190,310 JBrowse link
G LOC102030058 protein SCO1 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864674 NCBI chrNW_004955467:6,519,873...6,535,321
Ensembl chrNW_004955467:6,519,873...6,537,753
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO associated with Carbon Tetrachloride Poisoning RGD PMID:26237273 RGD:13800515 NCBI chrNW_004955458:4,861,431...4,941,939
Ensembl chrNW_004955458:4,861,431...4,941,146
JBrowse link
G Ltc4s leukotriene C4 synthase ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18461660 RGD:2302283 NCBI chrNW_004955408:788,856...791,505 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17185352 NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO mRNA:increased expression:liver (rat) RGD PMID:17009398 RGD:2317515 NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
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 chrNW_004955478:7,416,609...7,429,817 JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO DNA:mutations:multiple RGD PMID:26541327 RGD:25671408 NCBI chrNW_004955487:8,894,403...9,073,535
Ensembl chrNW_004955487:8,894,187...9,073,663
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased activity:liver (rat) RGD PMID:22001939 RGD:5509102 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA, protein:increased expression:liver RGD PMID:17276928 RGD:2292148 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Panx1 pannexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29246445 NCBI chrNW_004955414:405,483...448,470
Ensembl chrNW_004955414:401,188...448,470
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 chrNW_004955478:7,376,240...7,396,647
Ensembl chrNW_004955478:7,376,712...7,396,647
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:15313186 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Ptafr platelet activating factor receptor ISO mRNA:increased expression:liver (rat) RGD PMID:11414308 RGD:10043144 NCBI chrNW_004955452:7,309,854...7,345,579
Ensembl chrNW_004955452:7,311,901...7,312,929
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity ISO human gene in mouse model RGD PMID:18336855 PMID:19017995 RGD:14695009 RGD:2300286 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Fulminant hepatic failure ClinVar PMID:25050558 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31204009 NCBI chrNW_004955410:10,121,322...10,144,748
Ensembl chrNW_004955410:10,121,219...10,144,748
JBrowse link
G Serpinc1 serpin family C member 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:4089794 PMID:22563168 RGD:11035263 NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:11882417 RGD:1601654 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
G Tlr4 toll like receptor 4 treatment ISO mRNA:increased expression:liver RGD PMID:18070011 PMID:20546456 RGD:14700555 RGD:4144156 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Tnf tumor necrosis factor treatment
severity
ISO mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)
RGD
CTD
PMID:10979906 PMID:12960499 PMID:18070011 PMID:18946736 PMID:19505222 RGD:10450538 RGD:14700674 RGD:14995442 RGD:4144156 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:increased expression:liver RGD PMID:21272461 RGD:7175313 NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477
JBrowse link
Acute-On-Chronic Liver Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 susceptibility ISO associated with liver cirrhosis; RGD PMID:29105936 RGD:27095953 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO associated with liver cirrhosis;protein:increased expression:plasma (human)
Chronic hepatitis B; protein:increased expression:liver, plasma (human)
RGD PMID:27974825 PMID:29476704 RGD:26884362 RGD:26884367 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:hypophosphorylation:liver: RGD PMID:26234401 RGD:32716425 NCBI chrNW_004955424:210,867...279,267
Ensembl chrNW_004955424:226,038...280,593
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chrNW_004955478:7,720,664...7,803,662
Ensembl chrNW_004955478:7,751,830...7,799,460
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: RGD PMID:21489307 RGD:38549358 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
JBrowse link
G Gfer growth factor, augmenter of liver regeneration disease_progression ISO RGD PMID:22246190 RGD:9685741 NCBI chrNW_004955442:15,280,753...15,283,405
Ensembl chrNW_004955442:15,281,419...15,283,266
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
JBrowse link
G Il1rl1 interleukin 1 receptor like 1 disease_progression ISO associated with hepatitis B; RGD PMID:28381383 RGD:39938857 NCBI chrNW_004955470:7,779,828...7,849,157 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 chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
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 chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
JBrowse link
G Ppp1r15a protein phosphatase 1 regulatory subunit 15A ISO mRNA,protein:increased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chrNW_004955559:1,750,227...1,753,607
Ensembl chrNW_004955559:1,750,168...1,753,629
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 chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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 chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
JBrowse link
G Tlr4 toll like receptor 4 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Xbp1 X-box binding protein 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chrNW_004955455:3,037,885...3,041,827 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 OMIM NCBI chrNW_004955448:9,390,576...9,432,919
Ensembl chrNW_004955448:9,390,576...9,433,404
JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chrNW_004955453:10,089,547...10,097,634
Ensembl chrNW_004955453:10,089,547...10,097,634
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chrNW_004955414:13,410,751...13,528,014
Ensembl chrNW_004955414:13,410,741...13,528,423
JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chrNW_004955583:848,166...862,360
Ensembl chrNW_004955583:848,481...866,424
JBrowse link
End Stage Liver Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lep leptin ISO protein:decreased expression:serum (human) RGD PMID:9640405 RGD:25330350 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO RGD PMID:23874752 RGD:8661754 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chrNW_004955413:28,309,105...28,315,075
Ensembl chrNW_004955413:28,308,658...28,315,075
JBrowse link
hepatic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epor erythropoietin receptor ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chrNW_004955495:2,293,587...2,299,302
Ensembl chrNW_004955495:2,293,540...2,298,715
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15929193 RGD:6480237 NCBI chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
JBrowse link
G Gabrb1 gamma-aminobutyric acid type A receptor beta1 subunit ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain
CTD
RGD
PMID:15929193 RGD:6480237 NCBI chrNW_004955443:1,126,223...1,514,291
Ensembl chrNW_004955443:1,132,860...1,514,376
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor gamma2 subunit ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15929193 RGD:6480237 NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
JBrowse link
G Gc GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11510020 PMID:11521994 RGD:5509929 NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Glul glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chrNW_004955408:7,912,223...8,226,241
Ensembl chrNW_004955408:7,912,592...8,223,570
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:23670786 RGD:10766445 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Insr insulin receptor ISO protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767 PMID:10206825 PMID:10564534 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
JBrowse link
G Nos1 nitric oxide synthase 1 ISO protein:increased expression:neocortex
protein:increased expression:brain
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10206825 PMID:10564534 PMID:17083474 PMID:19763802 RGD:1642151 RGD:5132590 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Oprm1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chrNW_004955439:7,870,563...7,923,817
Ensembl chrNW_004955439:7,757,569...7,923,817
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chrNW_004955454:7,733,697...7,890,896
Ensembl chrNW_004955454:7,733,978...7,890,867
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO RGD PMID:21575628 RGD:5688266 NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305
JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:30940161 RGD:14995440 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 PMID:16338762 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825 PMID:10564534 NCBI chrNW_004955413:28,309,105...28,315,075
Ensembl chrNW_004955413:28,308,658...28,315,075
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:28492532 NCBI chrNW_004955487:8,894,403...9,073,535
Ensembl chrNW_004955487:8,894,187...9,073,663
JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO DNA:mutations:multiple RGD PMID:19732863 RGD:25440486 NCBI chrNW_004955413:30,440,014...30,453,860
Ensembl chrNW_004955413:30,440,282...30,453,860
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 OMIM NCBI chrNW_004955415:7,923,292...7,983,757
Ensembl chrNW_004955415:7,923,059...7,983,757
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 OMIM NCBI chrNW_004955487:8,894,403...9,073,535
Ensembl chrNW_004955487:8,894,187...9,073,663
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 OMIM NCBI chrNW_004955410:10,121,322...10,144,748
Ensembl chrNW_004955410:10,121,219...10,144,748
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 chrNW_004955414:405,483...448,470
Ensembl chrNW_004955414:401,188...448,470
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chrNW_004955454:7,733,697...7,890,896
Ensembl chrNW_004955454:7,733,978...7,890,867
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 OMIM NCBI chrNW_004955425:12,106,506...12,121,625
Ensembl chrNW_004955425:12,106,877...12,120,782
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 OMIM NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar PMID:17722119 NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697
JBrowse link
transient infantile liver failure 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: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:31761904 NCBI chrNW_004955487:8,894,403...9,073,535
Ensembl chrNW_004955487:8,894,187...9,073,663
JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO OMIM NCBI chrNW_004955413:30,440,014...30,453,860
Ensembl chrNW_004955413:30,440,282...30,453,860
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12757
    disease of anatomical entity 12441
      endocrine system disease 4649
        liver disease 2076
          Hepatic Insufficiency 123
            Liver Failure 115
              Acute Liver Failure + 71
              End Stage Liver Disease 5
              hepatic encephalopathy + 31
Path 2
Term Annotations click to browse term
  disease 12757
    disease of anatomical entity 12441
      gastrointestinal system disease 5049
        hepatobiliary disease 2157
          liver disease 2076
            Hepatic Insufficiency 123
              Liver Failure 115
                Acute Liver Failure + 71
                End Stage Liver Disease 5
                hepatic encephalopathy + 31
paths to the root