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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:Copper-Overload Cirrhosis
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Accession:DOID:9006395 term browser browse the term
Synonyms:primary_id: MESH:C566858;   RDO:0015081


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Copper-Overload Cirrhosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:241,159,724...241,172,503 		JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732 		JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr14:101,081,667...101,185,738
Ensembl chr14:101,081,667...101,185,639 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851 		JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,576,235...85,580,952
Ensembl chr10:85,576,235...85,580,952 		JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:134,407,626...134,423,787
Ensembl chr 7:134,407,584...134,423,786 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593 		JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 7008
        liver disease 2964
          Wilson disease 58
            Copper-Overload Cirrhosis 11
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1388
                Wilson disease 58
                  Copper-Overload Cirrhosis 11
paths to the root