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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


show annotations for term's descendants           Sort by:
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 chr 9:12,500,411...12,532,312
Ensembl chr 9:12,497,721...12,532,307 		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 chr 9:39,519,217...39,620,098
Ensembl chr 9:39,527,883...39,619,892 		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
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:28492532 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G DKK3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 2:47,385,244...47,444,664
Ensembl chr 2:47,385,192...47,444,660 		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 chr 2:9,100,672...9,118,396
Ensembl chr 2:9,100,702...9,118,390 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 treatment ISO protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr15:120,336,196...120,339,506
Ensembl chr15:120,336,488...120,339,505 		JBrowse link
G HHEX hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr14:104,194,424...104,199,684
Ensembl chr14:104,194,343...104,200,219 		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 chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631 		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 chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500 		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 chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944 		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 chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,662 		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 chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999 		JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 NCBI chr 1:118,913,400...118,958,140
Ensembl chr 1:118,913,460...118,917,334 		JBrowse link
G ONECUT2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 1:106,751,346...106,812,484
Ensembl chr 1:106,751,738...106,799,607 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting severity ISO RGD PMID:9988265 PMID:21685914 RGD:14402033 RGD:14402035 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		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 chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932 		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 chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149 		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 chr 2:70,097,424...70,114,460
Ensembl chr 2:70,097,444...70,114,446 		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 chr13:72,196,219...72,246,514
Ensembl chr13:72,200,511...72,248,582 		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 chr13:72,254,462...72,276,484
Ensembl chr13:72,254,464...72,269,914 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr10:59,790,073...59,817,039
Ensembl chr10:59,773,852...59,817,010 		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 chr 1:74,003,428...74,078,605
Ensembl chr 1:74,000,688...74,078,582 		JBrowse link
G UCP2 uncoupling protein 2 ISO OMIM:174050 MouseDO NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547 		JBrowse link
G XBP1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 NCBI chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,016,526 		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 chr 9:12,500,411...12,532,312
Ensembl chr 9:12,497,721...12,532,307 		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 chr 9:39,519,217...39,620,098
Ensembl chr 9:39,527,883...39,619,892 		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
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:28492532 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G DKK3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 2:47,385,244...47,444,664
Ensembl chr 2:47,385,192...47,444,660 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		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 chr 2:9,100,672...9,118,396
Ensembl chr 2:9,100,702...9,118,390 		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 chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G HHEX hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr14:104,194,424...104,199,684
Ensembl chr14:104,194,343...104,200,219 		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 chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631 		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 chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500 		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 chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944 		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 chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,662 		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 chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999 		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 chr 2:70,088,119...70,097,027
Ensembl chr 2:70,087,887...70,096,924 		JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:25741868 NCBI chr 1:118,913,400...118,958,140
Ensembl chr 1:118,913,460...118,917,334 		JBrowse link
G ONECUT2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 1:106,751,346...106,812,484
Ensembl chr 1:106,751,738...106,799,607 		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 chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		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 chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932 		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 chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149 		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 chr 2:70,097,424...70,114,460
Ensembl chr 2:70,097,444...70,114,446 		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 chr13:72,196,219...72,246,514
Ensembl chr13:72,200,511...72,248,582 		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 chr13:72,254,462...72,276,484
Ensembl chr13:72,254,464...72,269,914 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr10:59,790,073...59,817,039
Ensembl chr10:59,773,852...59,817,010 		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 chr 1:74,003,428...74,078,605
Ensembl chr 1:74,000,688...74,078,582 		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 chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,016,526 		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 chr 1:86,596,967...86,685,073
Ensembl chr 1:86,597,283...86,685,068 		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 chr 1:74,003,428...74,078,605
Ensembl chr 1:74,000,688...74,078,582 		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 chr 9:12,500,411...12,532,312
Ensembl chr 9:12,497,721...12,532,307 		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 chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15439
    disease of cellular proliferation 7381
      Cysts 298
        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 15439
    Developmental Disease 13500
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12625
        genetic disease 12335
          monogenic disease 10569
            autosomal genetic disease 10119
              autosomal dominant disease 6608
                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