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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-CoA dehydrogenase medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:9090694 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G ARG1 arginase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ASL argininosuccinate lyase ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,869
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
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:11251207 RGD:127285684 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,146...63,334,498
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 chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
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 chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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:7615203 PMID:18618250 RGD:14974253 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO RGD PMID:27510266 RGD:14398823 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,983...49,105,598
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 disease_progression ISO mRNA:decreased expression:liver (human) RGD PMID:24583248 RGD:14695536 NCBI chr12:19,965,885...19,975,783
Ensembl chr12:19,962,934...19,976,050
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:23155311 RGD:8655993 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G ORM1 orosomucoid 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18256743 NCBI chr 1:254,939,154...254,943,065 JBrowse link
G OTC ornithine transcarbamylase ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G RPS10 ribosomal protein S10 ISO RGD PMID:501300 RGD:11040911 NCBI chr 7:30,435,146...30,442,791
Ensembl chr 7:30,320,307...30,443,535
JBrowse link
G RPS6 ribosomal protein S6 ISO RGD PMID:501300 RGD:11040911 NCBI chr 1:203,444,360...203,447,643
Ensembl chr 1:203,444,450...203,451,468
JBrowse link
G RPS9 ribosomal protein S9 ISO RGD PMID:501300 RGD:11040911 NCBI chr 6:55,920,930...55,927,280
Ensembl chr 6:55,920,930...55,927,280
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: therapeutic CTD PMID:16757304 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
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 chr14:110,955,698...111,038,898
Ensembl chr14:110,955,656...111,078,873
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 1:272,912,239...272,935,316 JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16750869 PMID:18609519 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ATM ATM serine/threonine kinase treatment ISO RGD PMID:21224054 PMID:24565947 RGD:10053604 RGD:10053606 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATP7B ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8291609 PMID:25134866 RGD:15036817 NCBI chr11:15,892,549...15,942,070 JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:24748974 RGD:10755718 NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,443,697...36,634,088
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:12810955 RGD:14695025 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,515...74,730,092
JBrowse link
G CAST calpastatin ISO CTD Direct Evidence: therapeutic CTD PMID:16871587 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,630...103,378,623
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:14995451 RGD:8549567 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 ISO protein, mRNA:increased expression:serum, liver RGD PMID:12579535 RGD:14995451 NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,885...39,493,370
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO protein, mRNA:increased expression:serum, liver RGD PMID:12579535 RGD:14995451 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,885...39,557,358
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein, mRNA:increased expression:liver RGD PMID:12579535 RGD:14995451 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:liver RGD PMID:18070011 RGD:4144156 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,358...142,349,581
JBrowse link
G CD74 CD74 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799971 NCBI chr 2:151,402,210...151,409,924 JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:11786959 RGD:7257539 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18756972 PMID:21550386 RGD:11039421 RGD:11039537 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:23227188 RGD:27095895 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G F5 coagulation factor V severity ISO protein:altered expression (human) RGD PMID:1740285 RGD:14700653 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G FAS Fas cell surface death receptor treatment ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:liver:
protein:increased expression:hepatocyte:
CTD
RGD
PMID:10950056 PMID:12828076 PMID:25601293 PMID:28060213 RGD:14700667 RGD:14700678 RGD:14700697 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand ISO mRNA, protein:increased expression:liver, lymphocyte, serum:
mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
RGD
CTD
PMID:10950056 PMID:16279913 PMID:18946736 PMID:19505222 RGD:14401578 RGD:14700674 RGD:14700697 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G FGA fibrinogen alpha chain treatment ISO RGD PMID:24799907 RGD:11040538 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
JBrowse link
G FST follistatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,874...32,811,421
JBrowse link
G GC GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8666322 PMID:17852808 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,301...68,360,262
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 chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,985,082
JBrowse link
G GPNMB glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:15763343 NCBI chr 9:92,037,428...92,071,501
Ensembl chr 9:92,037,423...92,118,040
JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:12479984 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO mRNA:increased expression:liver (rat) RGD PMID:15270078 RGD:4891447 NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508
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 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic
rat model treated with human gene-expressing stem cells
CTD
RGD
PMID:20644519 PMID:22844472 RGD:6909176
G IL6 interleukin 6 treatment ISO RGD PMID:27085796 RGD:11062151 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G INHBA inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chr12:53,115,379...53,117,128
NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12639207 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,407
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:increased expression:liver: RGD PMID:10385646 RGD:12910730 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,735
JBrowse link
G KRT18 keratin 18 ISO protein:increased degradation:serum (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17847110 PMID:20538000 RGD:18337491 NCBI chr 5:18,217,686...18,221,432
Ensembl chr 5:18,217,691...18,222,833
JBrowse link
G KRT8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20538000 NCBI chr 5:18,172,423...18,180,277
Ensembl chr 5:18,170,354...18,180,404
JBrowse link
G LRP1 LDL receptor related protein 1 ISO associated with Carbon Tetrachloride Poisoning RGD PMID:26237273 RGD:13800515 NCBI chr 5:22,435,636...22,519,276 JBrowse link
G LTC4S leukotriene C4 synthase ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18461660 RGD:2302283 NCBI chr 2:78,799,446...78,802,281
Ensembl chr 2:78,799,448...78,802,256
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17185352 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,172,200
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO mRNA:increased expression:liver (rat) RGD PMID:17009398 RGD:2317515 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
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 chr12:14,612,177...14,637,946
Ensembl chr12:14,608,357...14,636,945
JBrowse link
G MIR122 microRNA mir-122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr 1:162,329,776...162,329,860
Ensembl chr 1:162,329,767...162,329,860
JBrowse link
G MIR221 microRNA mir-221 treatment ISO RGD PMID:21400558 RGD:18337268 NCBI chr  X:40,571,068...40,571,137
Ensembl chr  X:40,571,068...40,571,137
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:8,959...9,162
Ensembl chr MT:8,959...9,162
JBrowse link
G NBAS NBAS subunit of NRZ tethering complex ISO DNA:mutations:multiple RGD PMID:26541327 RGD:25671408 NCBI chr 3:121,882,734...122,242,325
Ensembl chr 3:121,882,743...122,242,327
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased activity:liver (rat) RGD PMID:22001939 RGD:5509102 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA, protein:increased expression:liver RGD PMID:17276928 RGD:2292148 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PANX1 pannexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29246445 NCBI chr 9:26,443,425...26,491,010
Ensembl chr 9:26,443,815...26,491,002
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 chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,576
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:15313186 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO protein:increased expression:blood RGD PMID:28513770 RGD:14975169 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056
JBrowse link
G PTAFR platelet activating factor receptor ISO mRNA:increased expression:liver (rat) RGD PMID:11414308 RGD:10043144 NCBI chr 6:85,235,390...85,272,360
Ensembl chr 6:85,235,390...85,272,333
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 chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
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 9:105,392,853...105,430,198
Ensembl chr 9:105,392,864...105,430,160
JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864674 NCBI chr12:55,406,730...55,424,120
Ensembl chr12:55,405,651...55,424,118
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 chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,980...116,193,201
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:11882417 RGD:1601654 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TLR4 toll like receptor 4 treatment ISO mRNA:increased expression:liver RGD PMID:18070011 PMID:20546456 RGD:14700555 RGD:4144156 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNF tumor necrosis factor treatment
severity
ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
RGD
CTD
PMID:10979906 PMID:12960499 PMID:18070011 PMID:18946736 PMID:19505222 RGD:10450538 RGD:14700674 RGD:14995442 RGD:4144156 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA:increased expression:liver RGD PMID:21272461 RGD:7175313 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,333,153...8,365,558
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 chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr15:129,172,743...129,176,069 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 5:63,300,200...63,334,497
Ensembl chr 5:63,300,146...63,334,498
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 susceptibility ISO associated with liver cirrhosis; RGD PMID:29105936 RGD:27095953 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 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 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:hypophosphorylation:liver: RGD PMID:26234401 RGD:32716425 NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,875...57,506,247
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr12:14,881,913...14,963,290
Ensembl chr12:14,881,923...14,997,426
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:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G GFER growth factor, augmenter of liver regeneration disease_progression ISO RGD PMID:22246190 RGD:9685741 NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,985,082
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chr11:7,195,556...7,321,071 JBrowse link
G IL1RL1 interleukin 1 receptor like 1 disease_progression ISO associated with hepatitis B; RGD PMID:28381383 RGD:39938857 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,803,165...51,951,383
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 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
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 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA,protein:increased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr 6:54,172,038...54,175,461
Ensembl chr 6:54,172,050...54,175,465
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 chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,060...74,955,192
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 chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
G TLR4 toll like receptor 4 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G XBP1 X-box binding protein 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,017,036
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 chr13:98,411,132...98,456,496
Ensembl chr13:98,357,814...98,458,525
JBrowse link
G MRPL44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr15:125,732,419...125,739,819
Ensembl chr15:125,732,383...125,740,085
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,676...80,232,774
JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 9:12,869,347...13,010,897
Ensembl chr 9:12,867,686...13,010,887
JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 7:23,404,400...23,416,442
Ensembl chr 7:23,398,445...23,418,295
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 9:93,171,371...93,262,124 JBrowse link
G IL28B interleukin 28B (interferon, lambda 3) treatment ISO DNA:SNPs:5'utr: (rs12979860, rs8099917) (human) RGD PMID:25130512 RGD:40400912 NCBI chr 6:47,951,925...47,953,282
Ensembl chr 6:47,951,794...47,953,282
JBrowse link
G LEP leptin ISO protein:decreased expression:serum (human) RGD PMID:9640405 RGD:25330350 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LOC102161030 interferon lambda-4 treatment ISO associated with Chronic Hepatitis C; DNA:SNP:5'utr: (rs368234815) (human) RGD PMID:25130512 RGD:40400912 NCBI chr 6:47,946,679...47,948,710 JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G NOS1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A treatment ISO RGD PMID:23874752 RGD:8661754 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G TSPO translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr 5:5,723,190...5,735,097
Ensembl chr 5:5,723,186...5,735,128
JBrowse link
hepatic encephalopathy 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 mRNA,protein:increased expression:brain, liver,serum: RGD PMID:29518527 RGD:14995926 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G EPOR erythropoietin receptor ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,515...70,068,821
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15929193 RGD:6480237 NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,583...61,724,257
JBrowse link
G GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain
CTD
RGD
PMID:15929193 RGD:6480237 NCBI chr 8:36,978,014...37,354,950
Ensembl chr 8:36,978,547...37,355,009
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15929193 RGD:6480237 NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,626...61,543,361
JBrowse link
G GC GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11510020 PMID:11521994 RGD:5509929 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,301...68,360,262
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GLUL glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chr16:69,332,786...69,654,366
Ensembl chr16:69,332,585...69,655,380
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:23670786 RGD:10766445
G INSR insulin receptor ISO protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G LTA lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767 PMID:10206825 PMID:10564534 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr  X:39,025,973...39,144,389
Ensembl chr  X:39,025,971...39,144,345
JBrowse link
G NOS1 nitric oxide synthase 1 ISO protein:increased expression:brain
CTD Direct Evidence: marker/mechanism
protein:increased expression:neocortex
RGD
CTD
PMID:10206825 PMID:10564534 PMID:17083474 PMID:19763802 RGD:1642151 RGD:5132590 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr 4:79,687,375...79,850,146
Ensembl chr 4:79,687,359...79,847,281
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO RGD PMID:21575628 RGD:5688266 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO RGD PMID:30940161 RGD:14995440 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 PMID:16338762 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TSPO translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825 PMID:10564534 NCBI chr 5:5,723,190...5,735,097
Ensembl chr 5:5,723,186...5,735,128
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 chr 3:121,882,734...122,242,325
Ensembl chr 3:121,882,743...122,242,327
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO DNA:mutations:multiple RGD PMID:19732863 RGD:25440486 NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,203,666...3,224,367
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 chr 2:147,480,132...147,554,197
Ensembl chr 2:147,477,378...147,554,196
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 chr 3:121,882,734...122,242,325
Ensembl chr 3:121,882,743...122,242,327
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 chr 9:105,392,853...105,430,198
Ensembl chr 9:105,392,864...105,430,160
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 9:26,443,425...26,491,010
Ensembl chr 9:26,443,815...26,491,002
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr 4:79,687,375...79,850,146
Ensembl chr 4:79,687,359...79,847,281
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 chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,550
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 chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,760...69,091,341
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar PMID:17722119 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,066,846...112,075,822
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 chr 3:121,882,734...122,242,325
Ensembl chr 3:121,882,743...122,242,327
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO OMIM NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,203,666...3,224,367
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13630
    disease of anatomical entity 13298
      endocrine system disease 5015
        liver disease 2283
          Hepatic Insufficiency 134
            Liver Failure 126
              Acute Liver Failure + 79
              End Stage Liver Disease 8
              hepatic encephalopathy + 32
Path 2
Term Annotations click to browse term
  disease 13630
    disease of anatomical entity 13298
      gastrointestinal system disease 5410
        hepatobiliary disease 2369
          liver disease 2283
            Hepatic Insufficiency 134
              Liver Failure 126
                Acute Liver Failure + 79
                End Stage Liver Disease 8
                hepatic encephalopathy + 32
paths to the root