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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:Alcoholic Liver Diseases
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Accession:DOID:9001285 term browser browse the term
Definition:Liver diseases associated with ALCOHOLISM. It usually refers to the coexistence of two or more subentities, i.e., ALCOHOLIC FATTY LIVER; ALCOHOLIC HEPATITIS; and ALCOHOLIC CIRRHOSIS.
Synonyms:exact_synonym: alcoholic liver disease
 primary_id: MESH:D008108
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Alcoholic Liver Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity ISO protein:increased activity:serum (human) RGD PMID:3028446 RGD:19165343 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP RGD PMID:24797033 RGD:25824940 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member susceptibility
severity
ISO DNA:missense mutation:cds, exon 12:p.E487K (human)
DNA:polymorphism:exon 12: (human)
DNA:deletion:cds: (mouse)
RGD PMID:1916152, PMID:12198368, PMID:26173414, PMID:3189338 RGD:14696699, RGD:14981580, RGD:11076022, RGD:14696790 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Angpt2 angiopoietin 2 severity ISO RGD PMID:24959006 RGD:15014784 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G C6 complement C6 resistance IAGP RGD PMID:15351314 RGD:1600673 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
JBrowse link
G Cav1 caveolin 1 treatment IEP RGD PMID:23764359 RGD:8662277 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cd27 CD27 molecule IEP RGD PMID:16698589 RGD:1581860 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
JBrowse link
G Cd59 CD59 molecule IEP protein:decreased expression:liver RGD PMID:12483994 RGD:1600486 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP::-318 T>C(rs5742909)(human) RGD PMID:15208156 RGD:14398728 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:liver RGD PMID:10498645 RGD:5135271 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP mRNA:increased expression:liver RGD PMID:10498645 RGD:5135271 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 IEP mRNA:increased expression:liver RGD PMID:10498645 RGD:5135271 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment ISO
IEP
RGD PMID:29401608, PMID:30192013, PMID:25592162, PMID:29902864 RGD:14700887, RGD:14700906, RGD:14700894, RGD:14700893 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:30502657 RGD:38599215 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha IDA RGD PMID:21059295 RGD:10395351 NCBI chr 6:102,048,372...102,073,041
Ensembl chr 6:102,048,372...102,073,041
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:15932176, PMID:26937962 RGD:14700973, RGD:11060494 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:15932176, PMID:26937962 RGD:14700973, RGD:11060494 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hfe homeostatic iron regulator IEP mRNA:increased expression:liver, Kupffer cell (rat) RGD PMID:18599584 RGD:8694397 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP mRNA:increased expression:liver (rat) RGD PMID:17085342 RGD:9068897 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Igf2 insulin-like growth factor 2 IEP mRNA:increased expression:liver RGD PMID:18505416 RGD:5510002 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:serum (rat) RGD PMID:23009062 RGD:7204488 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO mRNA:decreased expression:liver (human) RGD PMID:22459801 RGD:6892954 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Lpl lipoprotein lipase treatment IEP RGD PMID:28442378 RGD:13794376 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Mif macrophage migration inhibitory factor IEP protein:increased expression:liver RGD PMID:11798463 RGD:1642007 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mir122 microRNA 122 ISO miRNA:decreased expression:hepatocyte RGD PMID:28987423 RGD:14401600 NCBI chr18:60,755,285...60,755,369 JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:28492308 RGD:25314298 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir223 microRNA 223 severity ISO RGD PMID:27679493 RGD:21408575 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:liver RGD PMID:17374579 RGD:1642042 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression
severity
ISO mRNA:increased expression:liver RGD PMID:26576483, PMID:26576483 RGD:14695016, RGD:14695016 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO RGD PMID:12533840 RGD:1549458 NCBI chr15:34,340,607...34,352,673
Ensembl chr15:34,340,607...34,352,673
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment
severity
ISO DNA:SNP:promoter:rs35652124(human) RGD PMID:31906014, PMID:31340446 RGD:21201307, RGD:21201311 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Otc ornithine carbamoyltransferase IEP protein:increased expression:serum (rat) RGD PMID:19101528 RGD:4144059 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO protein:increased expression:serum RGD PMID:22098627 RGD:6484116 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946271 NCBI chr 7:125,034,760...125,056,165
Ensembl chr 7:125,034,764...125,055,976
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha severity ISO DNA:knockout::increased severity in knockouts (mouse) RGD PMID:15382117 RGD:5683636 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27765815 NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
JBrowse link
G Psmd14 proteasome 26S subunit, non-ATPase 14 IEP protein:decreased expression:liver, cytosolic proteasome complex (rat) RGD PMID:19609968 RGD:9480236 NCBI chr 3:47,578,449...47,673,330
Ensembl chr 3:47,578,384...47,673,338
JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762690 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
G Slc39a13 solute carrier family 39 member 13 IEP protein:increased expression:liver, endoplasmic reticulum (rat) RGD PMID:25767260 RGD:11553884 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model RGD PMID:11266387 RGD:9587792 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:32236798 RGD:27095880 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tbxas1 thromboxane A synthase 1 IEP mRNA,protein:increased expression:liver, Kupffer cell: RGD PMID:9262373 RGD:11059607 NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA,protein,activity:increased expression, increased activity:kupffer cell: RGD PMID:26725521 RGD:11574970 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tlr3 toll-like receptor 3 treatment ISO RGD PMID:23023014, PMID:30870678 RGD:21079426, RGD:21079436 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tnf tumor necrosis factor treatment IMP
IEP
mRNA:increased expression:liver (rat) RGD PMID:9397994, PMID:7556590, PMID:15670576 RGD:14398736, RGD:14995472, RGD:14995456 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Uchl5 ubiquitin C-terminal hydrolase L5 IEP protein:decreased expression:liver, cytosolic proteasome complex RGD PMID:19609968 RGD:9480236 NCBI chr13:60,568,102...60,603,812
Ensembl chr13:60,545,635...60,603,811
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma RGD PMID:24959006 RGD:15014784 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Alcoholic Fatty Liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:16115302 RGD:5686674 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP
ISO
RGD PMID:26115886, PMID:18755807, PMID:27220557, PMID:22013387 RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member severity
treatment
susceptibility
IDA
ISO
human transgene in mouse model
protein:altered processing:liver (mouse)
DNA:missense mutation:cds:p.E504K (human)
RGD PMID:17058263, PMID:25457208, PMID:29156373, PMID:29063269 RGD:1599041, RGD:15036811, RGD:15036805, RGD:14696776 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26428356, PMID:25583360, PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase IEP RGD PMID:17156888 RGD:1642369 NCBI chr10:46,339,821...46,404,640
Ensembl chr10:46,339,821...46,404,642
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:11477087 RGD:1625694 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:18296740 RGD:7207884 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:29884546, PMID:21463341 RGD:14697697, RGD:14700554 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment
ISO
IEP
DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463, PMID:20143470 RGD:14995434, RGD:38508901 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
alcoholic hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Agt angiotensinogen ISO mRNA:decreased expression:liver RGD PMID:17258719 RGD:1601135 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alb albumin severity ISO protein:increased expression, modification:urine RGD PMID:29369844 RGD:14694842 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO RNA:increased expression:liver: RGD PMID:24429361, PMID:21826694, PMID:10446112 RGD:14975280, RGD:14995491, RGD:14995467 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 severity ISO RGD PMID:10446112 RGD:14995467 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:12586603, PMID:31258651 RGD:14995304 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:1670041 RGD:5688335 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431
JBrowse link
G Fas Fas cell surface death receptor treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fgf19 fibroblast growth factor 19 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 1:218,058,405...218,061,693
Ensembl chr 1:218,058,405...218,061,693
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased expression:hepatocyte RGD PMID:1347281 RGD:14402038 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il13 interleukin 13 IEP mRNA:increased expression:liver RGD PMID:16698589 RGD:1581860 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il18 interleukin 18 severity ISO associated alcoholic liver cirrhosis; protein:increased expression:plasma: RGD PMID:15566508 RGD:14696666 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 5:151,776,004...151,779,319
Ensembl chr 5:151,776,004...151,779,319
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Slc10a1 solute carrier family 10 member 1 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 6:104,617,730...104,631,355
Ensembl chr 6:104,617,730...104,631,355
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26220752 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Sult1e1 sulfotransferase family 1E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26220752 NCBI chr14:22,070,861...22,089,264
Ensembl chr14:22,072,024...22,089,248
JBrowse link
G Tnf tumor necrosis factor treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:12586603, PMID:27939985 RGD:15036816 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
alcoholic liver cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member susceptibility ISO DNA:missense mutation:cds:p.E504K (human)
DNA:missense mutation:cds: (rs671) (human)
associated with alcohol dependence;DNA:missense mutation:exon 12:p.E487K (human)
RGD PMID:29779728, PMID:23550892, PMID:11051375 RGD:14696777, RGD:15042864, RGD:15042858 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:16205370 RGD:6483345 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Crp C-reactive protein severity ISO RGD PMID:22441510 RGD:6482305 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20843640, PMID:29404441 RGD:14700873 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Fabp2 fatty acid binding protein 2 onset ISO DNA:polymorphism:CDS:amino acid A54T, homozygosity of the T allele associated with later onset RGD PMID:16289894, PMID:16289894 RGD:1578455, RGD:1578455 NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
JBrowse link
G Il18bp interleukin 18 binding protein ISO protein:increased expression:plasma: RGD PMID:15566508 RGD:14696666 NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Jak2 Janus kinase 2 ISO mRNA, protein:increased expression, increased tyrosine phosphorylation:liver RGD PMID:24619965 RGD:10403061 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Lep leptin IDA DNA:hypomethylation:promoter (human) RGD PMID:29912265 RGD:21201248 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26482880 NCBI chr 1:64,100,159...64,114,437
Ensembl chr 1:64,101,018...64,113,792
JBrowse link
G Mir122 microRNA 122 ISO miRNA:decreased expression:liver RGD PMID:28987423 RGD:14401600 NCBI chr18:60,755,285...60,755,369 JBrowse link
G Mir141 microRNA 141 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
JBrowse link
G Mir17 microRNA 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr15:100,179,879...100,179,962
Ensembl chr15:100,179,879...100,179,962
JBrowse link
G Mir193b microRNA 193b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr14:30,331,049...30,331,131
Ensembl chr14:30,331,049...30,331,131
JBrowse link
G Mir423 microRNA 423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr10:63,098,366...63,098,444
Ensembl chr10:63,098,360...63,098,453
JBrowse link
G Mir484 microRNA 484 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr10:27,845...27,921
Ensembl chr10:27,845...27,921
JBrowse link
G Mir532 microRNA 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr  X:16,109,870...16,109,948
Ensembl chr  X:16,109,870...16,109,948
JBrowse link
G Mir93 microRNA 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr12:19,307,543...19,307,629
Ensembl chr12:19,307,543...19,307,629
JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP RGD PMID:16286264 RGD:10043176 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19731237, PMID:23274713 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:25987440 RGD:14696749 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Plau plasminogen activator, urokinase IDA RGD PMID:19615318 RGD:7241800 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946271, PMID:26482880 NCBI chr 7:125,034,760...125,056,165
Ensembl chr 7:125,034,764...125,055,976
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:serum (human) RGD PMID:27748324 RGD:27226704 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: : 47T>C(human)
CTD PMID:19731237, PMID:26873981 RGD:11060603 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:increased expression:blood, neutrophil (human) RGD PMID:18433921 RGD:5130706 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tm6sf2 transmembrane 6 superfamily member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26482880 NCBI chr16:21,092,483...21,099,695
Ensembl chr16:21,092,308...21,099,878
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      endocrine system disease 4988
        liver disease 2394
          Alcoholic Liver Diseases 114
            Alcoholic Fatty Liver 23
            alcoholic hepatitis 25
            alcoholic liver cirrhosis 38
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              substance-related disorder 615
                Alcohol-Related Disorders 290
                  Alcoholic Liver Diseases 114
                    Alcoholic Fatty Liver 23
                    alcoholic hepatitis 25
                    alcoholic liver cirrhosis 38
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.