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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;   Laennec's cirrhosis;   Laennec's cirrhosis, alcoholic;   Portal cirrhosis;   alcoholic cirrhosis of liver
 primary_id: MESH:D008104
 xref: EFO:1000802;   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 associated with alcohol dependence;DNA:missense mutation:exon 12:p.E487K (human)
DNA:missense mutation:cds: (rs671) (human)
DNA:missense mutation:cds:p.E504K (human)		 RGD PMID:11051375 PMID:23550892 PMID:29779728 RGD:14696777 RGD:15042858 RGD:15042864 NCBI chrNW_004624747:20,407,190...20,438,605
Ensembl chrNW_004624747:20,403,717...20,438,690 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G C3 complement C3 ISO RGD PMID:9176087 RGD:408418722 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:16205370 RGD:6483345 NCBI chrNW_004624795:1,856,455...1,861,142
Ensembl chrNW_004624795:1,855,992...1,861,053 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624899:1,192,078...1,230,528
Ensembl chrNW_004624899:1,192,360...1,230,404 		JBrowse link
G Crp C-reactive protein severity ISO RGD PMID:22441510 RGD:6482305 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 severity ISO mRNA:increased expression:liver (human) RGD PMID:33173221 RGD:151347691 NCBI chrNW_004624754:24,881,439...24,905,633
Ensembl chrNW_004624754:24,880,496...24,896,995 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression
ameliorates		 ISO RGD PMID:21199726 PMID:23409069 RGD:150429766 RGD:150517731 NCBI chrNW_004624826:1,225,217...1,255,889
Ensembl chrNW_004624826:1,173,621...1,249,692 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 susceptibility ISO DNA:SNP:intron 8:84435G>A (human) RGD PMID:19428381 RGD:402463950 NCBI chrNW_004624733:27,506,827...27,593,750
Ensembl chrNW_004624733:27,504,660...27,594,039 		JBrowse link
G Il18bp interleukin 18 binding protein ISO protein:increased expression:plasma: RGD PMID:15566508 RGD:14696666 NCBI chrNW_004624817:4,963,586...4,967,122
Ensembl chrNW_004624817:4,964,403...4,965,944 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Jak2 Janus kinase 2 ISO mRNA, protein:increased expression, increased tyrosine phosphorylation:liver RGD PMID:24619965 RGD:10403061 NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365 		JBrowse link
G Lep leptin ISO DNA:hypomethylation:promoter (human) RGD PMID:29912265 RGD:21201248 NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727 		JBrowse link
G LOC101722366 cytochrome P450 2E1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20843640 PMID:29404441 RGD:14700873 NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514 		JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26482880 NCBI chrNW_004624832:2,407,110...2,417,566
Ensembl chrNW_004624832:2,407,196...2,417,574 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:16286264 RGD:10043176 NCBI chrNW_004624918:2,228,688...2,239,852 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19731237 PMID:23274713 NCBI chrNW_004624871:121,026...131,433
Ensembl chrNW_004624871:121,026...131,323 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:25987440 RGD:14696749 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chrNW_004624795:3,102,424...3,109,497
Ensembl chrNW_004624795:3,102,439...3,109,497 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:19615318 RGD:7241800 NCBI chrNW_004624754:7,405,637...7,415,870
Ensembl chrNW_004624754:7,408,983...7,416,559 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:serum (human) RGD PMID:27748324 RGD:27226704 NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624781:5,795,652...5,890,047
Ensembl chrNW_004624781:5,795,652...5,890,371 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:SNP: : 47T>C(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19731237 PMID:26873981 RGD:11060603 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Tg thyroglobulin ISO RGD PMID:6883738 RGD:401976502 NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Tm6sf2 transmembrane 6 superfamily member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26482880 NCBI chrNW_004624908:2,136,563...2,143,574
Ensembl chrNW_004624908:2,136,747...2,143,560 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      endocrine system disease 5714
        liver disease 2563
          liver cirrhosis 1034
            alcoholic liver cirrhosis 32
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12254
        central nervous system disease 10972
          brain disease 10297
            disease of mental health 7369
              substance-related disorder 584
                Alcohol-Related Disorders 324
                  Alcoholic Liver Diseases 128
                    alcoholic liver cirrhosis 32
paths to the root