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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.



show annotations for term's descendants           Sort by:
 
Liver Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:9090694 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Arg1 arginase, liver ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Asl argininosuccinate lyase ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 5:130,011,258...130,024,381
Ensembl chr 5:130,011,258...130,029,247
JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 2:31,470,270...31,520,670
Ensembl chr 2:31,470,207...31,520,672
JBrowse link
G Cd163 CD163 antigen 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 6:124,304,636...124,330,529
Ensembl chr 6:124,304,656...124,330,527
JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO mRNA:increased expression:liver (rat)
mRNA:decreased expression:liver (rat)
RGD PMID:11779202 PMID:8836904 RGD:70249, RGD:4140432 NCBI chr 1:67,122,426...67,231,267
Ensembl chr 1:67,123,026...67,231,259
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 disease_progression ISO associated with transient myeloproliferative syndrome and Down syndrome;protein:increased expression:serum (human) RGD PMID:30314728 RGD:26884360 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
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
RGD
PMID:18618250 PMID:7615203 RGD:14974253 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G Fah fumarylacetoacetate hydrolase ISO RGD PMID:27510266 RGD:14398823 NCBI chr 7:84,585,159...84,605,942
Ensembl chr 7:84,585,159...84,606,722
JBrowse link
G G6pc glucose-6-phosphatase, catalytic disease_progression ISO mRNA:decreased expression:liver (human) RGD PMID:24583248 RGD:14695536 NCBI chr11:101,367,716...101,377,903
Ensembl chr11:101,367,561...101,377,903
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:23155311 RGD:8655993 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18256743 NCBI chr 4:63,344,556...63,348,163
Ensembl chr 4:63,344,560...63,348,163
JBrowse link
G Otc ornithine transcarbamylase ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr  X:10,252,230...10,321,024
Ensembl chr  X:10,252,305...10,321,024
JBrowse link
G Rps10 ribosomal protein S10 ISO RGD PMID:501300 RGD:11040911 NCBI chr17:27,630,415...27,635,244
Ensembl chr17:27,630,418...27,636,669
JBrowse link
G Rps6 ribosomal protein S6 ISO RGD PMID:501300 RGD:11040911 NCBI chr 4:86,854,099...86,857,367
Ensembl chr 4:86,854,660...86,857,412
JBrowse link
G Rps9 ribosomal protein S9 ISO RGD PMID:501300 RGD:11040911 NCBI chr 7:3,703,954...3,706,897
Ensembl chr 7:3,703,993...3,706,897
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: therapeutic CTD PMID:16757304 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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, sub-family C (CFTR/MRP), member 2 ISO RGD PMID:16899240 RGD:1598605 NCBI chr19:43,782,308...43,838,332
Ensembl chr19:43,782,192...43,840,740
JBrowse link
G Abo ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, transferase B, alpha 1-3-galactosyltransferase) treatment ISO associated with Chronic Hepatitis B RGD PMID:22321886 RGD:39938835 NCBI chr 2:26,842,496...26,864,995
Ensembl chr 2:26,842,503...26,864,979
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16750869 PMID:18609519 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Atm ataxia telangiectasia mutated treatment ISO
IEP
RGD PMID:24565947 PMID:21224054 RGD:10053604, RGD:10053606 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:25134866 PMID:8291609 RGD:15036817 NCBI chr 8:21,992,783...22,060,074
Ensembl chr 8:21,992,785...22,060,305
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:24748974 RGD:10755718 NCBI chr11:86,058,136...86,201,215
Ensembl chr11:86,058,138...86,201,193
JBrowse link
G Casp12 caspase 12 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr 9:5,345,442...5,373,034
Ensembl chr 9:5,345,430...5,373,032
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr 8:46,617,291...46,639,698
Ensembl chr 8:46,617,291...46,639,689
JBrowse link
G Casp8 caspase 8 treatment IMP RGD PMID:12810955 RGD:14695025 NCBI chr 1:58,795,233...58,847,503
Ensembl chr 1:58,795,374...58,847,503
JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr 4:141,793,612...141,815,978
Ensembl chr 4:141,793,612...141,815,976
JBrowse link
G Cast calpastatin ISO CTD Direct Evidence: therapeutic CTD PMID:16871587 NCBI chr13:74,692,366...74,808,874
Ensembl chr13:74,692,368...74,808,810
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:liver (human)
protein, mRNA:increased expression:serum, liver
RGD PMID:8283136 PMID:12579535 RGD:8549567, RGD:14995451 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Ccl3 chemokine (C-C motif) ligand 3 ISO protein, mRNA:increased expression:serum, liver RGD PMID:12579535 RGD:14995451 NCBI chr11:83,647,843...83,649,378
Ensembl chr11:83,647,844...83,649,355
JBrowse link
G Ccl4 chemokine (C-C motif) ligand 4 ISO protein, mRNA:increased expression:serum, liver RGD PMID:12579535 RGD:14995451 NCBI chr11:83,648,624...83,664,683
Ensembl chr11:83,662,584...83,664,683
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 ISO protein, mRNA:increased expression:liver RGD PMID:12579535 RGD:14995451 NCBI chr11:83,525,778...83,530,518
Ensembl chr11:83,525,778...83,530,518
JBrowse link
G Cd14 CD14 antigen ISO mRNA:increased expression:liver RGD PMID:18070011 RGD:4144156 NCBI chr18:36,725,064...36,726,815
Ensembl chr18:36,725,067...36,726,798
JBrowse link
G Cd74 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799971 NCBI chr18:60,803,849...60,812,652
Ensembl chr18:60,803,848...60,812,652
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO RGD PMID:11786959 RGD:7257539 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21550386 PMID:18756972 PMID:21550386 RGD:11039421, RGD:11039537 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 treatment IEP RGD PMID:23227188 RGD:27095895 NCBI chr 5:92,346,638...92,348,889
Ensembl chr 5:92,346,638...92,348,889
JBrowse link
G F5 coagulation factor V severity ISO protein:altered expression (human) RGD PMID:1740285 RGD:14700653 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) treatment ISO
IMP
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:hepatocyte:
mRNA,protein:increased expression:liver:
CTD
RGD
PMID:12828076 PMID:10950056 PMID:28060213 PMID:25601293 PMID:25601293 RGD:14700697, RGD:14700678, RGD:14700667, RGD:14700667 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:liver, lymphocyte, serum:
mRNA,protein:increased expression:liver:
mRNA:increased expression:liver
CTD
RGD
PMID:19505222 PMID:10950056 PMID:18946736 PMID:16279913 RGD:14700697, RGD:14700674, RGD:14401578 NCBI chr 1:161,780,691...161,788,495
Ensembl chr 1:161,780,689...161,788,495
JBrowse link
G Fga fibrinogen alpha chain treatment ISO RGD PMID:24799907 RGD:11040538 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Fst follistatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chr13:114,452,262...114,458,989
Ensembl chr13:114,452,290...114,458,951
JBrowse link
G Gc vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8666322 PMID:17852808 NCBI chr 5:89,417,511...89,457,898
Ensembl chr 5:89,417,522...89,457,898
JBrowse link
G Gfer growth factor, augmenter of liver regeneration treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:15968720 PMID:23337881 RGD:9685775 NCBI chr17:24,693,190...24,696,156
Ensembl chr17:24,693,187...24,696,156
JBrowse link
G Gpnmb glycoprotein (transmembrane) nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:15763343 NCBI chr 6:49,036,518...49,058,182
Ensembl chr 6:49,036,546...49,070,929
JBrowse link
G Gpt glutamic pyruvic transaminase, soluble ISO protein:increased expression:blood RGD PMID:28513770 RGD:14975169 NCBI chr15:76,696,726...76,699,675
Ensembl chr15:76,695,716...76,699,686
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:12479984 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Hspa8 heat shock protein 8 ISO mRNA:increased expression:liver (rat) RGD PMID:15270078 RGD:4891447 NCBI chr 9:40,801,276...40,805,202
Ensembl chr 9:40,800,984...40,810,087
JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) RGD PMID:30109600 RGD:14975142 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human gene-expressing stem cells
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:20644519 PMID:22844472 RGD:6909176 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:27085796 RGD:11062151 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Inhba inhibin beta-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chr13:16,004,256...16,031,609
Ensembl chr13:16,011,851...16,031,621
JBrowse link
G Ins1 insulin I ISO mRNA:increased expression:pancreatic islet RGD PMID:17097861 RGD:2298712 NCBI chr19:52,264,297...52,265,015
Ensembl chr19:52,264,297...52,265,476
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:12639207 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:21538466 RGD:8662894 NCBI chr 1:172,341,210...172,374,085
Ensembl chr 1:172,341,210...172,374,085
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA:increased expression:liver: RGD PMID:10385646 RGD:12910730 NCBI chr 5:75,574,987...75,656,722
Ensembl chr 5:75,574,916...75,656,722
JBrowse link
G Krt18 keratin 18 ISO CTD Direct Evidence: marker/mechanism
protein:increased degradation:serum (human)
CTD
RGD
PMID:20538000 PMID:17847110 RGD:18337491 NCBI chr15:102,028,216...102,032,026
Ensembl chr15:102,028,180...102,032,027
JBrowse link
G Krt8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20538000 NCBI chr15:101,996,711...102,004,342
Ensembl chr15:101,996,698...102,004,482
JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IMP associated with Carbon Tetrachloride Poisoning RGD PMID:26237273 RGD:13800515 NCBI chr10:127,538,157...127,621,148
Ensembl chr10:127,538,161...127,621,148
JBrowse link
G Ltc4s leukotriene C4 synthase ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18461660 RGD:2302283 NCBI chr11:50,236,461...50,238,532
Ensembl chr11:50,236,461...50,238,616
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17185352 NCBI chr14:33,377,898...33,447,353
Ensembl chr14:33,377,898...33,447,158
JBrowse link
G Met met proto-oncogene ISO mRNA:increased expression:liver (rat) RGD PMID:17009398 RGD:2317515 NCBI chr 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
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 chr11:106,750,646...106,768,794
Ensembl chr11:106,751,226...106,768,794
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr18:65,248,861...65,248,926
Ensembl chr18:65,248,861...65,248,926
JBrowse link
G Mir221 microRNA 221 treatment IDA RGD PMID:21400558 RGD:18337268 NCBI chr  X:19,146,294...19,146,388
Ensembl chr  X:19,146,294...19,146,388
JBrowse link
G Mir223 microRNA 223 disease_progression ISO
IEP
RNA:increased expression:serum,liver RGD PMID:28646120 PMID:25562161 RGD:21408574, RGD:21408585 NCBI chr  X:96,242,817...96,242,926
Ensembl chr  X:96,242,817...96,242,926
JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial disease_progression IMP associated with Endotoxemia RGD PMID:21167184 RGD:5490296 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
JBrowse link
G Nbas neuroblastoma amplified sequence ISO DNA:mutations:multiple RGD PMID:26541327 RGD:25671408 NCBI chr12:13,269,101...13,637,380
Ensembl chr12:13,269,133...13,583,811
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased activity:liver (rat) RGD PMID:22001939 RGD:5509102 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO mRNA, protein:increased expression:liver RGD PMID:17276928 RGD:2292148 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Panx1 pannexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29246445 NCBI chr 9:15,005,785...15,045,478
Ensembl chr 9:15,002,128...15,045,478
JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Liver Failure, Acute ClinVar PMID:25741868 PMID:27592148 PMID:30157269 NCBI chr11:106,768,204...106,779,537
Ensembl chr11:106,768,253...106,779,537
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15313186 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
JBrowse link
G Ptafr platelet-activating factor receptor ISO mRNA:increased expression:liver (rat) RGD PMID:11414308 RGD:10043144 NCBI chr 4:132,564,067...132,582,683
Ensembl chr 4:132,564,067...132,582,683
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity ISO human gene in mouse model RGD PMID:18336855 PMID:19017995 RGD:2300286, RGD:14695009 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
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 chr 5:23,787,698...23,823,584
Ensembl chr 5:23,787,711...23,820,369
JBrowse link
G Sco1 SCO1 cytochrome c oxidase assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864674 NCBI chr11:67,052,600...67,067,444
Ensembl chr11:67,052,670...67,067,070
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:4089794 PMID:22563168 RGD:11035263 NCBI chr 1:160,978,583...161,002,543
Ensembl chr 1:160,978,585...161,005,863
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:11882417 RGD:1601654 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Tlr4 toll-like receptor 4 treatment ISO mRNA:increased expression:liver RGD PMID:18070011 PMID:20546456 RGD:4144156, RGD:14700555 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tnf tumor necrosis factor severity
treatment
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 chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO mRNA:increased expression:liver RGD PMID:21272461 RGD:7175313 NCBI chr 7:100,493,337...100,499,629
Ensembl chr 7:100,493,337...100,502,020
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 treatment IEP RGD PMID:29574133 RGD:14402051 NCBI chr 1:88,211,959...88,220,002
Ensembl chr 1:88,211,959...88,218,997
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 chemokine (C-C motif) ligand 2 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Cd163 CD163 antigen exacerbates ISO associated with Chronic Hepatitis B;protein:increased expression:blood plasma (human) RGD PMID:23687420 RGD:127285680 NCBI chr 6:124,304,636...124,330,529
Ensembl chr 6:124,304,656...124,330,527
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 susceptibility ISO associated with liver cirrhosis; RGD PMID:29105936 RGD:27095953 NCBI chr 5:92,346,638...92,348,889
Ensembl chr 5:92,346,638...92,348,889
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO Chronic hepatitis B; protein:increased expression:liver, plasma (human)
associated with liver cirrhosis;protein:increased expression:plasma (human)
RGD PMID:27974825 PMID:29476704 RGD:26884362, RGD:26884367 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:hypophosphorylation:liver: RGD PMID:26234401 RGD:32716425 NCBI chr 6:70,844,484...70,905,241
Ensembl chr 6:70,844,515...70,905,245
JBrowse link
G Ern1 endoplasmic reticulum (ER) to nucleus signalling 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr11:106,397,620...106,487,796
Ensembl chr11:106,394,650...106,487,852
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: RGD PMID:21489307 RGD:38549358 NCBI chr  X:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G Gfer growth factor, augmenter of liver regeneration disease_progression ISO RGD PMID:22246190 RGD:9685741 NCBI chr17:24,693,190...24,696,156
Ensembl chr17:24,693,187...24,696,156
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 disease_progression ISO associated with hepatitis B; RGD PMID:28381383 RGD:39938857 NCBI chr 1:40,404,864...40,465,418
Ensembl chr 1:40,429,570...40,465,415
JBrowse link
G Il21 interleukin 21 ameliorates ISO associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) RGD PMID:21692955 RGD:127285541 NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
JBrowse link
G Il27 interleukin 27 ISO associated with hepatitis B;protein:increased expression:blood serum (human) RGD PMID:23890319 PMID:31198792 RGD:126790526, RGD:126790529 NCBI chr 7:126,589,009...126,595,035
Ensembl chr 7:126,589,010...126,594,941
JBrowse link
G Mir146 microRNA 146 susceptibility ISO associated with hepatitis B;miRNA:SNP: (rs2910164) (human) RGD PMID:23292505 RGD:126925160 NCBI chr11:43,374,397...43,374,461
Ensembl chr11:43,374,397...43,374,461
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISO mRNA,protein:increased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr 7:45,522,917...45,526,268
Ensembl chr 7:45,522,916...45,526,268
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 exacerbates ISO associated with Chronic Hepatitis B;mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:30996211 RGD:127229914 NCBI chr14:55,784,995...55,788,857
Ensembl chr14:55,784,995...55,788,865
JBrowse link
G Tlr3 toll-like receptor 3 susceptibility ISO associated with Hepatitis B, Chronic; DNA:SNP: :1234C>T (human) RGD PMID:23076446 RGD:21079425 NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Tlr4 toll-like receptor 4 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Xbp1 X-box binding protein 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr11:5,520,641...5,525,993
Ensembl chr11:5,520,659...5,525,893
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:16632485 PMID:17160893 PMID:21119709 PMID:21986555 More... NCBI chr 3:67,430,115...67,475,068
Ensembl chr 3:67,430,096...67,476,529
JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 1:79,776,018...79,781,445
Ensembl chr 1:79,776,018...79,781,445
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 9:98,588,730...98,601,679
Ensembl chr 9:98,588,730...98,601,660
JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2 (mitochondrial)(putative) ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 7:96,950,839...97,064,758
Ensembl chr 7:96,951,505...97,064,758
JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr17:35,655,634...35,667,639
Ensembl chr17:35,655,634...35,667,592
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, sub-family B (MDR/TAP), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO associated with hepatitis C;DNA:polymorphism: :HLA-DQB1*03(human) RGD PMID:11302974 RGD:36174014 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO associated with hepatitis C;DNA:polymorphism: : HLA-DRB1*11(human) RGD PMID:11302974 RGD:36174014 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Ifnl2 interferon lambda 2 treatment ISO DNA:SNPs:5'utr: (rs12979860, rs8099917) (human) RGD PMID:25130512 RGD:40400912 NCBI chr 7:28,508,784...28,510,532
Ensembl chr 7:28,508,836...28,510,455
JBrowse link
G Lep leptin IEP protein:decreased expression:serum (human) RGD PMID:9640405 RGD:25330350 NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr  X:16,619,698...16,687,812
Ensembl chr  X:16,619,698...16,687,818
JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr 5:117,866,839...117,958,840
Ensembl chr 5:117,781,032...117,958,840
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a treatment ISO RGD PMID:23874752 RGD:8661754 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr15:83,563,573...83,574,203
Ensembl chr15:83,563,592...83,574,203
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 (MDR/TAP), member 1B ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 5:8,798,147...8,866,314
Ensembl chr 5:8,798,147...8,866,315
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA,protein:increased expression:brain, liver,serum: RGD PMID:29518527 RGD:14995926 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Epor erythropoietin receptor ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 9:21,958,897...21,963,576
Ensembl chr 9:21,958,897...21,963,506
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gabra1 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15929193 PMID:15929193 RGD:6480237 NCBI chr11:42,130,939...42,183,066
Ensembl chr11:42,130,939...42,182,930
JBrowse link
G Gabrb1 gamma-aminobutyric acid (GABA) A receptor, subunit beta 1 ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15929193 PMID:15929193 RGD:6480237 NCBI chr 5:71,657,921...72,149,572
Ensembl chr 5:71,658,113...72,149,037
JBrowse link
G Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15929193 PMID:15929193 RGD:6480237 NCBI chr11:41,910,190...42,000,857
Ensembl chr11:41,910,203...42,000,857
JBrowse link
G Gc vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11510020 PMID:11521994 RGD:5509929 NCBI chr 5:89,417,511...89,457,898
Ensembl chr 5:89,417,522...89,457,898
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Glul glutamate-ammonia ligase (glutamine synthetase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr 1:153,899,929...153,909,723
Ensembl chr 1:153,899,944...153,909,723
JBrowse link
G Gria1 glutamate receptor, ionotropic, AMPA1 (alpha 1) ISO protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chr11:57,011,571...57,330,244
Ensembl chr11:57,011,387...57,330,244
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:23670786 RGD:10766445 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Insr insulin receptor ISO protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
G Lta lymphotoxin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767 PMID:10206825 PMID:10564534 NCBI chr  X:16,619,698...16,687,812
Ensembl chr  X:16,619,698...16,687,818
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr  X:16,709,281...16,817,366
Ensembl chr  X:16,709,282...16,817,366
JBrowse link
G Nos1 nitric oxide synthase 1, neuronal 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 chr 5:117,866,839...117,958,840
Ensembl chr 5:117,781,032...117,958,840
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chr10:6,758,593...7,038,209
Ensembl chr10:6,758,506...7,038,198
JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr16:15,637,444...15,842,239
Ensembl chr16:15,637,866...15,842,235
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO RGD PMID:21575628 RGD:5688266 NCBI chr 2:36,216,742...36,258,593
Ensembl chr 2:36,230,426...36,252,272
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:30940161 RGD:14995440 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 PMID:16338762 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825 PMID:10564534 NCBI chr15:83,563,573...83,574,203
Ensembl chr15:83,563,592...83,574,203
JBrowse link
infantile liver failure syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas neuroblastoma amplified sequence ISO ClinVar Annotator: match by term: Infantile liver failure syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26073778 PMID:26541327 PMID:28492532 NCBI chr12:13,269,101...13,637,380
Ensembl chr12:13,269,133...13,583,811
JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO DNA:mutations:multiple RGD PMID:19732863 RGD:25440486 NCBI chr15:85,879,309...85,897,394
Ensembl chr15:85,879,312...85,897,394
JBrowse link
infantile liver failure syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars leucyl-tRNA synthetase ISO ClinVar Annotator: match by term: Infantile liver failure syndrome 1 ClinVar
OMIM
PMID:22607940 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr18:42,202,298...42,262,237
Ensembl chr18:42,202,298...42,262,194
JBrowse link
Infantile Liver Failure Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas neuroblastoma amplified sequence ISO ClinVar Annotator: match by term: 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:26541327 More... NCBI chr12:13,269,101...13,637,380
Ensembl chr12:13,269,133...13,583,811
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
ClinVar Annotator: match by term: Infantile liver failure syndrome 3
OMIM
ClinVar
PMID:25050558 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31204009 NCBI chr 5:23,787,698...23,823,584
Ensembl chr 5:23,787,711...23,820,369
JBrowse link
Massive Hepatic Necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Panx1 pannexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29246445 NCBI chr 9:15,005,785...15,045,478
Ensembl chr 9:15,002,128...15,045,478
JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr16:15,637,444...15,842,239
Ensembl chr16:15,637,866...15,842,235
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 chr10:71,225,468...71,238,328
Ensembl chr10:71,225,464...71,238,280
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
RGD
PMID:9175742 PMID:9536098 PMID:11687800 PMID:11983456 PMID:12205643 More... RGD:15039214 NCBI chr 6:83,480,214...83,506,969
Ensembl chr 6:83,480,217...83,506,969
JBrowse link
G Mpv17 MpV17 mitochondrial inner membrane protein IEA OMIM:251880 MouseDO NCBI chr 5:31,140,663...31,154,251
Ensembl chr 5:31,140,654...31,154,251
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar PMID:17722119 NCBI chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
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:9536098 PMID:17576681 PMID:19732863 PMID:21153446 More... NCBI chr15:85,879,309...85,897,394
Ensembl chr15:85,879,312...85,897,394
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14522
    disease of anatomical entity 14120
      endocrine system disease 5372
        liver disease 2458
          Hepatic Insufficiency 142
            Liver Failure 134
              Acute Liver Failure + 84
              End Stage Liver Disease 9
              hepatic encephalopathy + 34
Path 2
Term Annotations click to browse term
  disease 14522
    disease of anatomical entity 14120
      gastrointestinal system disease 5776
        hepatobiliary disease 2557
          liver disease 2458
            Hepatic Insufficiency 142
              Liver Failure 134
                Acute Liver Failure + 84
                End Stage Liver Disease 9
                hepatic encephalopathy + 34
paths to the root