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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 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ARG1 arginase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ASL argininosuccinate lyase ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
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 chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
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 chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
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 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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 chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO RGD PMID:27510266 RGD:14398823 NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 disease_progression ISO mRNA:decreased expression:liver (human) RGD PMID:24583248 RGD:14695536 NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:23155311 RGD:8655993 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL32 interleukin 32 exacerbates ISO hepatitis B;mRNA:increased expression:blood serum (human) RGD PMID:24579465 RGD:150340745 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G OTC ornithine transcarbamylase ISO mRNA:increased expression:liver (rat) RGD PMID:11779202 RGD:70249 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G RPS10 ribosomal protein S10 ISO RGD PMID:501300 RGD:11040911 NCBI chr 6:33,982,735...33,991,470 JBrowse link
G RPS6 ribosomal protein S6 ISO RGD PMID:501300 RGD:11040911 NCBI chr 9:19,185,455...19,189,504
Ensembl chr 9:19,674,380...19,677,722
JBrowse link
G RPS9 ribosomal protein S9 ISO RGD PMID:501300 RGD:11040911 NCBI chr19:51,132,900...51,139,713
Ensembl chr19:59,974,377...59,981,236
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: therapeutic CTD PMID:16757304 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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 chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
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 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16750869 PMID:18609519 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G ATM ATM serine/threonine kinase treatment ISO RGD PMID:21224054 PMID:24565947 RGD:10053604 RGD:10053606 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATP7B ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8291609 PMID:25134866 RGD:15036817 NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO mRNA:increased expression:liver (rat) RGD PMID:24748974 RGD:10755718 NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:12810955 RGD:14695025 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26238033 RGD:13782174 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
JBrowse link
G CAST calpastatin ISO CTD Direct Evidence: therapeutic CTD PMID:16871587 NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein, mRNA:increased expression:serum, liver
mRNA:increased expression:liver (human)
RGD PMID:8283136 PMID:12579535 RGD:14995451 RGD:8549567 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein, mRNA:increased expression:liver RGD PMID:12579535 RGD:14995451 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:liver RGD PMID:18070011 RGD:4144156 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
JBrowse link
G CD74 CD74 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799971 NCBI chr 5:145,825,635...145,836,916
Ensembl chr 5:151,830,311...151,841,334
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:11786959 RGD:7257539 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
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 chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:23227188 RGD:27095895 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G F5 coagulation factor V severity ISO protein:altered expression (human) RGD PMID:1740285 RGD:14700653 NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
JBrowse link
G FAS Fas cell surface death receptor treatment ISO protein:increased expression:hepatocyte:
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:liver:
RGD
CTD
PMID:10950056 PMID:12828076 PMID:25601293 PMID:28060213 RGD:14700667 RGD:14700678 RGD:14700697 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FASLG Fas ligand ISO mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:liver, lymphocyte, serum:
mRNA:increased expression:liver
RGD
CTD
PMID:10950056 PMID:16279913 PMID:18946736 PMID:19505222 RGD:14401578 RGD:14700674 RGD:14700697 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FGA fibrinogen alpha chain treatment ISO RGD PMID:24799907 RGD:11040538 NCBI chr 4:146,949,680...146,957,291 JBrowse link
G FST follistatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chr 5:60,544,495...60,550,516 JBrowse link
G GC GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8666322 PMID:17852808 NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
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 chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592
JBrowse link
G GPNMB glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:15763343 NCBI chr 7:23,931,220...23,959,687
Ensembl chr 7:23,539,928...23,568,624
JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:12479984 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO mRNA:increased expression:liver (rat) RGD PMID:15270078 RGD:4891447 NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
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 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:27085796 RGD:11062151 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G INHBA inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12560755 NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12639207 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
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 1:135,391,321...135,424,100 JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:increased expression:liver: RGD PMID:10385646 RGD:12910730 NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
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 chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196
JBrowse link
G KRT8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20538000 NCBI chr12:35,855,367...35,863,248
Ensembl chr12:36,634,582...36,642,564
JBrowse link
G LOC100988585 transmembrane protein 220 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864674 NCBI chr17:40,923,397...40,973,382
Ensembl chr17:45,703,642...45,720,520
Ensembl chr17:45,703,642...45,720,520
JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein ISO rat model treated with human gene-expressing stem cells
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:20644519 PMID:22844472 RGD:6909176 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G LRP1 LDL receptor related protein 1 ISO associated with Carbon Tetrachloride Poisoning RGD PMID:26237273 RGD:13800515 NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
JBrowse link
G LTC4S leukotriene C4 synthase ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18461660 RGD:2302283 NCBI chr 5:174,946,346...174,950,805 JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17185352 NCBI chr10:45,806,748...45,936,362 JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO mRNA:increased expression:liver (rat) RGD PMID:17009398 RGD:2317515 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
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 chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
JBrowse link
G NBAS NBAS subunit of NRZ tethering complex ISO DNA:mutations:multiple RGD PMID:26541327 RGD:25671408 NCBI chr2A:15,159,193...15,552,121
Ensembl chr2A:15,293,512...15,685,820
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased activity:liver (rat) RGD PMID:22001939 RGD:5509102 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA, protein:increased expression:liver RGD PMID:17276928 RGD:2292148 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G PANX1 pannexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29246445 NCBI chr11:89,142,686...89,295,972
Ensembl chr11:92,628,760...92,685,109
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 chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:15313186 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PTAFR platelet activating factor receptor ISO mRNA:increased expression:liver (rat) RGD PMID:11414308 RGD:10043144 NCBI chr 1:27,405,880...27,436,184
Ensembl chr 1:28,447,833...28,448,861
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 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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 7:97,522,208...97,567,897
Ensembl chr 7:110,252,776...110,287,702
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 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:11882417 RGD:1601654 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
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 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor treatment
severity
ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
protein:increased expression:serum (human)
CTD
RGD
PMID:10979906 PMID:12960499 PMID:18070011 PMID:18946736 PMID:19505222 RGD:10450538 RGD:14700674 RGD:14995442 RGD:4144156 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA:increased expression:liver RGD PMID:21272461 RGD:7175313 NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
JBrowse link
Acute-On-Chronic Liver Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:serum: RGD PMID:19247846 RGD:14995923 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
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 chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 susceptibility ISO associated with liver cirrhosis; RGD PMID:29105936 RGD:27095953 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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 chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:hypophosphorylation:liver: RGD PMID:26234401 RGD:32716425 NCBI chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr17:58,132,889...58,224,012
Ensembl chr17:63,226,949...63,317,825
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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G GFER growth factor, augmenter of liver regeneration disease_progression ISO RGD PMID:22246190 RGD:9685741 NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
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 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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
G IL32 interleukin 32 exacerbates ISO associated with hepatitis B;protein:increased expression:liver (human) RGD PMID:26241657 RGD:11079509 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA,protein:increased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr19:45,872,596...45,876,376
Ensembl chr19:54,880,141...54,883,003
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 chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
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 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G TLR4 toll like receptor 4 treatment ISO RGD PMID:23591781 RGD:10402084 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G XBP1 X-box binding protein 1 ISO mRNA, protein:decreased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943
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 chr 3:155,670,432...155,721,404
Ensembl chr 3:163,721,479...163,769,454
JBrowse link
G MRPL44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr2B:111,203,655...111,213,888
Ensembl chr2B:229,779,983...229,790,240
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr11:73,496,423...73,634,623
Ensembl chr11:77,117,668...77,255,037
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 6:30,659,346...30,671,678
Ensembl chr 6:31,527,372...31,539,814
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 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439
JBrowse link
G LEP leptin ISO protein:decreased expression:serum (human) RGD PMID:9640405 RGD:25330350 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO associated with hepatitis C;DNA:polymorphism: :HLA-DQB1*03(human) RGD PMID:11302974 RGD:36174014 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199
JBrowse link
G NOS1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A treatment ISO RGD PMID:23874752 RGD:8661754 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TSPO translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15025246 NCBI chr22:24,034,918...24,046,370
Ensembl chr22:42,233,619...42,244,930
JBrowse link
hepatic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO mRNA,protein:increased expression:brain, liver,serum: RGD PMID:29518527 RGD:14995926 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G EPOR erythropoietin receptor ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
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 chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
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 4:74,727,321...75,164,407
Ensembl chr 4:85,459,225...85,857,321
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain
CTD
RGD
PMID:15929193 RGD:6480237 NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
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 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GLUL glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chr 5:148,879,996...149,206,914
Ensembl chr 5:154,879,080...155,204,660
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:23670786 RGD:10766445 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G INSR insulin receptor ISO protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
JBrowse link
G LTA lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767 PMID:10206825 PMID:10564534 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199
JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr  X:36,217,710...36,333,516
Ensembl chr  X:44,042,000...44,157,941
JBrowse link
G NOS1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:brain
protein:increased expression:neocortex
CTD
RGD
PMID:10206825 PMID:10564534 PMID:17083474 PMID:19763802 RGD:1642151 RGD:5132590 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chr 6:151,827,323...151,937,658
Ensembl chr 6:156,517,661...157,088,251
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO RGD PMID:21575628 RGD:5688266 NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO RGD PMID:30940161 RGD:14995440 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 PMID:16338762 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TSPO translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825 PMID:10564534 NCBI chr22:24,034,918...24,046,370
Ensembl chr22:42,233,619...42,244,930
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 chr2A:15,159,193...15,552,121
Ensembl chr2A:15,293,512...15,685,820
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO DNA:mutations:multiple RGD PMID:19732863 RGD:25440486 Ensembl chr22:45,399,506...45,421,439 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 5:141,562,798...141,631,388
Ensembl chr 5:147,578,042...147,646,834
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 chr2A:15,159,193...15,552,121
Ensembl chr2A:15,293,512...15,685,820
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 7:97,522,208...97,567,897
Ensembl chr 7:110,252,776...110,287,702
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 chr11:89,142,686...89,295,972
Ensembl chr11:92,628,760...92,685,109
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
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 chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972
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 chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar PMID:17722119 NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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 chr2A:15,159,193...15,552,121
Ensembl chr2A:15,293,512...15,685,820
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO OMIM Ensembl chr22:45,399,506...45,421,439 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13864
    disease of anatomical entity 13524
      endocrine system disease 4972
        liver disease 2195
          Hepatic Insufficiency 126
            Liver Failure 118
              Acute Liver Failure + 73
              End Stage Liver Disease 7
              hepatic encephalopathy + 32
Path 2
Term Annotations click to browse term
  disease 13864
    disease of anatomical entity 13524
      gastrointestinal system disease 5404
        hepatobiliary disease 2283
          liver disease 2195
            Hepatic Insufficiency 126
              Liver Failure 118
                Acute Liver Failure + 73
                End Stage Liver Disease 7
                hepatic encephalopathy + 32
paths to the root