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ONTOLOGY REPORT - ANNOTATIONS


Term:primary biliary cirrhosis
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Accession:DOID:12236 term browser browse the term
Definition:FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.
Synonyms:exact_synonym: Liver Cirrhoses, Biliary;   PBC;   biliary cirrhosis;   biliary liver cirrhosis;   cholestatic cirrhosis;   chronic nonsuppurative destructive cholangitis;   obstructive liver cirrhosis;   secondary biliary cirrhosis
 primary_id: MESH:D008105
 alt_id: RDO:0004489
 xref: GARD:7459;   NCI:C27167;   NCI:C51225;   OMIM:PS109720;   ORDO:186
For additional species annotation, visit the Alliance of Genome Resources.


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primary biliary cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb4 ATP binding cassette subfamily B member 4 JBrowse link 4 22,133,984 22,192,687 RGD:11554173
RGD:14694982
G Abcc2 ATP binding cassette subfamily C member 2 JBrowse link 1 263,554,426 263,612,556 RGD:11554173
RGD:14700810
G Abcg2 ATP binding cassette subfamily G member 2 JBrowse link 4 88,765,441 88,890,268 RGD:11554173
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:2325226
G Ace2 angiotensin I converting enzyme 2 JBrowse link X 32,050,734 32,095,860 RGD:9685452
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:9685452
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11554173
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148030
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:11554173
G Ccn2 cellular communication network factor 2 JBrowse link 1 21,851,657 21,854,773 RGD:2314517
G Cd3d CD3d molecule JBrowse link 8 49,282,502 49,287,095 RGD:11554173
G Cd80 Cd80 molecule JBrowse link 11 64,815,201 64,855,293 RGD:11554173
G Cdh5 cadherin 5 JBrowse link 19 1,025,122 1,074,333 RGD:11554173
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8662434
G Clec16a C-type lectin domain containing 16A JBrowse link 10 5,002,196 5,196,914 RGD:11554173
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8552731
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:2301998
RGD:14398744
RGD:14398743
RGD:14398725
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link 14 17,210,733 17,212,930 RGD:11554173
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:11554173
G Cxcr5 C-X-C motif chemokine receptor 5 JBrowse link 8 48,835,688 48,852,032 RGD:11554173
G Cygb cytoglobin JBrowse link 10 105,618,325 105,628,091 RGD:11554173
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:2314895
G Dennd1b DENN domain containing 1B JBrowse link 13 56,015,813 56,242,041 RGD:11554173
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 JBrowse link 3 2,617,795 2,623,818 RGD:9685530
RGD:11554173
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:14700711
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041639
RGD:11041732
G Hhip Hedgehog-interacting protein JBrowse link 19 31,525,134 31,614,487 RGD:11552599
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:625603
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:11520783
G Igfbp1 insulin-like growth factor binding protein 1 JBrowse link 14 87,448,716 87,453,783 RGD:11554173
G Il12a interleukin 12A JBrowse link 2 165,076,945 165,083,996 RGD:11554173
G Il12b interleukin 12B JBrowse link 10 30,034,447 30,048,774 RGD:11554173
G Il12rb1 interleukin 12 receptor subunit beta 1 JBrowse link 16 20,370,722 20,383,576 RGD:14700865
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:7829828
G Il7r interleukin 7 receptor RGD:11554173
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:10403061
G Keap1 Kelch-like ECH-associated protein 1 JBrowse link 8 22,250,518 22,259,868 RGD:11554173
G Krt7 keratin 7 JBrowse link 7 143,059,731 143,075,907 RGD:11554173
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:9588625
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:10411894
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:10411894
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:11554173
G Loxl2 lysyl oxidase-like 2 JBrowse link 15 51,276,022 51,365,238 RGD:11554173
G Map3k14 mitogen-activated protein kinase kinase kinase 14 JBrowse link 10 91,303,428 91,353,601 RGD:13592920
G Mapk14 mitogen activated protein kinase 14 JBrowse link 20 5,933,290 5,995,137 RGD:11554173
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor JBrowse link 1 48,076,761 48,108,218 RGD:9685452
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:14694826
G Mmel1 membrane metallo-endopeptidase-like 1 JBrowse link 5 172,273,450 172,303,905 RGD:11554173
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8552731
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8552731
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8552731
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8552731
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link 1 214,663,929 214,693,197 RGD:2324885
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:11554173
G Nfkb1 nuclear factor kappa B subunit 1 JBrowse link 2 240,773,520 240,890,053 RGD:11554173
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:5509055
RGD:11554173
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11554173
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 JBrowse link 7 30,003,429 30,162,095 RGD:14928336
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:4892607
G Nsa2 NSA2 ribosome biogenesis factor JBrowse link 2 27,942,546 27,949,089 RGD:11554173
G Nup62 nucleoporin 62 JBrowse link 1 100,811,140 100,827,119 RGD:9831196
G Pde5a phosphodiesterase 5A JBrowse link 2 226,899,604 227,044,916 RGD:2314466
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:6484526
G Rela RELA proto-oncogene, NF-kB subunit JBrowse link 1 220,992,770 221,003,249 RGD:11554173
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:6892690
G Rps6kb1 ribosomal protein S6 kinase B1 JBrowse link 10 73,824,200 73,865,503 RGD:1642977
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:14401562
G Slc4a2 solute carrier family 4 member 2 JBrowse link 4 7,264,677 7,282,355 RGD:11554173
G Slc51a solute carrier family 51, alpha subunit JBrowse link 11 71,533,078 71,547,476 RGD:11554173
G Slc51b solute carrier family 51, beta subunit JBrowse link 8 70,930,196 70,938,559 RGD:11554173
G Slco1a1 solute carrier organic anion transporter family, member 1a1 JBrowse link 4 176,158,174 176,231,331 RGD:14700810
G Slco1c1 solute carrier organic anion transporter family, member 1c1 JBrowse link 4 175,729,709 175,776,749 RGD:14700810
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:2317411
G Spib Spi-B transcription factor JBrowse link 1 100,531,538 100,537,397 RGD:11554173
G Spint1 serine peptidase inhibitor, Kunitz type 1 JBrowse link 3 111,049,132 111,061,991 RGD:10043111
G Spint2 serine peptidase inhibitor, Kunitz type, 2 JBrowse link 1 87,199,373 87,221,826 RGD:10043111
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:14995307
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:11554173
G Tyk2 tyrosine kinase 2 JBrowse link 8 22,118,224 22,149,807 RGD:11554173
G Ubd ubiquitin D JBrowse link 20 1,876,175 1,878,126 RGD:11554173
G Utp4 UTP4 small subunit processome component JBrowse link 19 39,087,995 39,116,124 RGD:1600653
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:1331525
RGD:14402024
RGD:14401750
North American Indian Childhood Cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Utp4 UTP4 small subunit processome component JBrowse link 19 39,087,995 39,116,124 RGD:8554872
RGD:7240710
Reynolds Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      endocrine system disease 4799
        liver disease 2315
          liver cirrhosis 1052
            primary biliary cirrhosis 85
              Familial Primary Biliary Cirrhosis 0
              North American Indian Childhood Cirrhosis 1
              Primary Biliary Cirrhosis 1 0
              Primary Biliary Cirrhosis 2 0
              Primary Biliary Cirrhosis 3 0
              Primary Biliary Cirrhosis 4 0
              Primary Biliary Cirrhosis 5 0
              Reynolds Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      gastrointestinal system disease 4373
        hepatobiliary disease 2402
          biliary tract disease 400
            bile duct disease 370
              cholestasis 279
                intrahepatic cholestasis 109
                  primary biliary cirrhosis 85
                    Familial Primary Biliary Cirrhosis 0
                    North American Indian Childhood Cirrhosis 1
                    Primary Biliary Cirrhosis 1 0
                    Primary Biliary Cirrhosis 2 0
                    Primary Biliary Cirrhosis 3 0
                    Primary Biliary Cirrhosis 4 0
                    Primary Biliary Cirrhosis 5 0
                    Reynolds Syndrome 1
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.