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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:polycystic liver disease
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Accession:DOID:0050770 term browser browse the term
Definition:A liver disease that is characterized by the presence of multiple cysts located_in the liver. (DO)
Synonyms:exact_synonym: congenital cystic disease of liver;   congenital cystic liver disease;   congenital hepatic cyst;   fibrocystic liver disease
 broad_synonym: cystic liver disease
 xref: EFO:1001505;   GARD:9457;   MESH:C536330;   MIM:PS174050

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polycystic liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg8 ALG8 alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:19688606 PMID:19862844 PMID:25741868 PMID:26066342 PMID:28106320 More... NCBI chrNW_004955414:13,832,808...13,863,076
Ensembl chrNW_004955414:13,832,788...13,863,184 		JBrowse link
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909 		JBrowse link
G Cdc25a cell division cycle 25A treatment ISO ClinVar Annotator: match by term: Congenital cystic disease of liver RGD
ClinVar		 PMID:22155366 RGD:14700990 NCBI chrNW_004955420:24,345,002...24,361,802
Ensembl chrNW_004955420:24,344,388...24,362,596 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:28492532 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chrNW_004955414:27,466,636...27,507,186
Ensembl chrNW_004955414:27,456,770...27,508,109 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:28492532 PMID:33097077 NCBI chrNW_004955599:556,510...569,891
Ensembl chrNW_004955599:556,362...573,353 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 treatment ISO protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chrNW_004955453:15,109,711...15,112,438
Ensembl chrNW_004955453:15,109,711...15,112,438 		JBrowse link
G Hhex hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chrNW_004955425:737,506...742,775
Ensembl chrNW_004955425:735,378...742,775 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 More... NCBI chrNW_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:10227563 PMID:21105491 PMID:23227446 PMID:23247789 PMID:24097065 More... NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:28492532 PMID:30452590 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:26901136 PMID:28492532 NCBI chrNW_004955413:9,080,901...9,237,644
Ensembl chrNW_004955413:9,080,914...9,237,650 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chrNW_004955455:3,862,804...3,950,669
Ensembl chrNW_004955455:3,862,347...3,951,891 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 NCBI chrNW_004955409:2,181,364...2,214,636
Ensembl chrNW_004955409:2,181,346...2,207,888 		JBrowse link
G Onecut2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chrNW_004955402:41,782,281...41,839,782
Ensembl chrNW_004955402:41,782,281...41,839,782 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO RGD PMID:9988265 PMID:21685914 RGD:14402033 RGD:14402035 NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955474:1,831,221...1,868,170
Ensembl chrNW_004955474:1,833,701...1,868,817 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... NCBI chrNW_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955495:2,331,075...2,338,479
Ensembl chrNW_004955495:2,331,569...2,337,946 		JBrowse link
G Ruvbl1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:36478640 NCBI chrNW_004955429:15,598,465...15,632,290
Ensembl chrNW_004955429:15,598,465...15,633,713 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:36478640 NCBI chrNW_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chrNW_004955462:166,423...189,592
Ensembl chrNW_004955462:166,423...189,585 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:20095989 PMID:24886261 PMID:25741868 PMID:28375157 PMID:28492532 More... NCBI chrNW_004955411:33,063,056...33,126,325
Ensembl chrNW_004955411:33,063,989...33,126,105 		JBrowse link
G Ucp2 uncoupling protein 2 ISO OMIM:174050 MouseDO NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477 		JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 NCBI chrNW_004955455:3,037,885...3,041,827 JBrowse link
polycystic liver disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg8 ALG8 alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:19688606 PMID:19862844 PMID:25741868 PMID:26066342 PMID:28106320 More... NCBI chrNW_004955414:13,832,808...13,863,076
Ensembl chrNW_004955414:13,832,788...13,863,184 		JBrowse link
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909 		JBrowse link
G Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease ClinVar NCBI chrNW_004955420:24,345,002...24,361,802
Ensembl chrNW_004955420:24,344,388...24,362,596 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:28492532 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chrNW_004955414:27,466,636...27,507,186
Ensembl chrNW_004955414:27,456,770...27,508,109 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease ClinVar PMID:25741868 PMID:28492532 PMID:33097077 NCBI chrNW_004955599:556,510...569,891
Ensembl chrNW_004955599:556,362...573,353 		JBrowse link
G Hdac6 histone deacetylase 6 treatment ISO mRNA,protein:increased expression:cholangiocytee,liver:
protein:increased expression:liver: 		RGD PMID:24434010 RGD:9681551 NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071 		JBrowse link
G Hhex hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chrNW_004955425:737,506...742,775
Ensembl chrNW_004955425:735,378...742,775 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 More... NCBI chrNW_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:10227563 PMID:21105491 PMID:23227446 PMID:23247789 PMID:24097065 More... NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:missense mutation:cds:p.R118W (3562C>T) (human)
ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 		RGD
ClinVar		 PMID:24706814 PMID:25741868 PMID:28492532 PMID:30452590 RGD:11063140 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 PMID:26901136 PMID:28492532 NCBI chrNW_004955413:9,080,901...9,237,644
Ensembl chrNW_004955413:9,080,914...9,237,650 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chrNW_004955455:3,862,804...3,950,669
Ensembl chrNW_004955455:3,862,347...3,951,891 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:25741868 NCBI chrNW_004955495:2,318,840...2,330,966
Ensembl chrNW_004955495:2,318,471...2,330,508 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 NCBI chrNW_004955409:2,181,364...2,214,636
Ensembl chrNW_004955409:2,181,346...2,207,888 		JBrowse link
G Onecut2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chrNW_004955402:41,782,281...41,839,782
Ensembl chrNW_004955402:41,782,281...41,839,782 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:9668165 PMID:17582161 PMID:21744088 PMID:22185115 PMID:25263802 More... NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955474:1,831,221...1,868,170
Ensembl chrNW_004955474:1,833,701...1,868,817 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... NCBI chrNW_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: PRKCSH-related condition | ClinVar Annotator: match by term: Polycystic liver disease 1 OMIM
ClinVar		 PMID:9536098 PMID:11047756 PMID:12529853 PMID:12577059 PMID:16835903 More... NCBI chrNW_004955495:2,331,075...2,338,479
Ensembl chrNW_004955495:2,331,569...2,337,946 		JBrowse link
G Ruvbl1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 PMID:36478640 NCBI chrNW_004955429:15,598,465...15,632,290
Ensembl chrNW_004955429:15,598,465...15,633,713 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 PMID:36478640 NCBI chrNW_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chrNW_004955462:166,423...189,592
Ensembl chrNW_004955462:166,423...189,585 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease | ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:20095989 PMID:24886261 PMID:25741868 PMID:28375157 PMID:28492532 More... NCBI chrNW_004955411:33,063,056...33,126,325
Ensembl chrNW_004955411:33,063,989...33,126,105 		JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 NCBI chrNW_004955455:3,037,885...3,041,827 JBrowse link
polycystic liver disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Polycystic liver disease 2 ClinVar PMID:17546029 PMID:23946133 PMID:24265693 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955502:7,325,650...7,373,641
Ensembl chrNW_004955502:7,325,103...7,376,368 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 2 | ClinVar Annotator: match by term: SEC63-related condition OMIM
ClinVar		 PMID:9536098 PMID:15133510 PMID:16199547 PMID:17576681 PMID:20095989 More... NCBI chrNW_004955411:33,063,056...33,126,325
Ensembl chrNW_004955411:33,063,989...33,126,105 		JBrowse link
polycystic liver disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg8 ALG8 alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts OMIM
ClinVar		 PMID:9536098 PMID:15235028 PMID:16199547 PMID:17576681 PMID:19688606 More... NCBI chrNW_004955414:13,832,808...13,863,076
Ensembl chrNW_004955414:13,832,788...13,863,184 		JBrowse link
polycystic liver disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS | ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts OMIM
ClinVar		 PMID:9536098 PMID:11719191 PMID:12579474 PMID:15024691 PMID:15077203 More... NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    disease of cellular proliferation 6899
      Cysts 286
        polycystic liver disease 29
          polycystic liver disease 1 26
          polycystic liver disease 2 2
          polycystic liver disease 3 1
          polycystic liver disease 4 1
Path 2
Term Annotations click to browse term
  disease 14341
    Developmental Disease 12613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        genetic disease 11608
          monogenic disease 9987
            autosomal genetic disease 9592
              autosomal dominant disease 6263
                polycystic liver disease 29
                  polycystic liver disease 1 26
                  polycystic liver disease 2 2
                  polycystic liver disease 3 1
                  polycystic liver disease 4 1
paths to the root