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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 cirrhosis
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Accession:DOID:14018 term browser browse the term
Definition:FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING.
Synonyms:exact_synonym: Alcoholic Cirrhosis;   Alcoholic Hepatic Cirrhosis;   Alcoholic cirrhosis of liver;   Laennec's cirrhosis;   Laennec's cirrhosis, alcoholic;   Portal cirrhosis
 primary_id: MESH:D008104;   RDO:0006021
 xref: ICD10CM:K70.3;   ICD9CM:571.2;   NCI:C34782
For additional species annotation, visit the Alliance of Genome Resources.


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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 16023
    disease of anatomical entity 15278
      endocrine system disease 0
        liver disease 2413
          liver cirrhosis 1090
            alcoholic liver cirrhosis 38
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              substance-related disorder 613
                Alcohol-Related Disorders 288
                  Alcoholic Liver Diseases 114
                    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.