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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
 primary_id: MESH:C536330
 xref: EFO:1001505;   GARD:9457;   OMIM: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 chr11:73,161,036...73,197,628
Ensembl chr11:76,784,096...76,819,764 		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 chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179 		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 chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:28492532 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G DKK3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr11:12,131,306...12,177,906
Ensembl chr11:11,824,955...11,871,139 		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 chr11:57,982,393...58,003,871
Ensembl chr11:61,336,487...61,357,908 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 treatment ISO protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119 		JBrowse link
G HHEX hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr10:89,433,402...89,439,137
Ensembl chr10:92,947,373...92,952,992 		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 chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863 		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 chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536 		JBrowse link
G LOC100972297 nuclear pore complex-interacting protein family member B6 severity ISO RGD PMID:9988265 PMID:21685914 RGD:14402033 RGD:14402035 NCBI chr16:604,927...1,697,831 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 chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817 		JBrowse link
G LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:26901136 PMID:28492532 NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973 		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 chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr15:31,694,830...31,727,644
Ensembl chr15:50,016,010...50,053,062 		JBrowse link
G ONECUT2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr18:50,826,110...50,882,127 JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775 		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 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		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 chr19:10,981,398...10,997,062
Ensembl chr19:11,693,620...11,707,728 		JBrowse link
G RUVBL1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 3:125,120,524...125,200,859
Ensembl chr 3:132,486,229...132,528,918 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 3:125,091,916...125,111,238
Ensembl chr 3:132,457,005...132,476,935 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr10:12,136,907...12,175,765
Ensembl chr10:12,102,536...12,161,092 		JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:20095989 PMID:25741868 NCBI chr 6:105,673,265...105,757,422
Ensembl chr 6:109,538,184...109,595,518 		JBrowse link
G UCP2 uncoupling protein 2 ISO OMIM:174050 MouseDO NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185 		JBrowse link
G XBP1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943 		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 chr11:73,161,036...73,197,628
Ensembl chr11:76,784,096...76,819,764 		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 chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179 		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 chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:28492532 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G DKK3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr11:12,131,306...12,177,906
Ensembl chr11:11,824,955...11,871,139 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111 		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 chr11:57,982,393...58,003,871
Ensembl chr11:61,336,487...61,357,908 		JBrowse link
G HDAC6 histone deacetylase 6 treatment ISO protein:increased expression:liver:
mRNA,protein:increased expression:cholangiocytee,liver:		 RGD PMID:24434010 RGD:9681551 NCBI chr  X:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642 		JBrowse link
G HHEX hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr10:89,433,402...89,439,137
Ensembl chr10:92,947,373...92,952,992 		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 chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863 		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 chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536 		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 chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817 		JBrowse link
G LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:26901136 PMID:28492532 NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973 		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 chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr19:10,967,913...10,982,032
Ensembl chr19:11,678,306...11,693,332 		JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr15:31,694,830...31,727,644
Ensembl chr15:50,016,010...50,053,062 		JBrowse link
G ONECUT2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr18:50,826,110...50,882,127 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 chr16:604,366...605,560 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 NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease ClinVar PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		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: Polycystic liver disease 1 OMIM
ClinVar		 PMID:11047756 PMID:12529853 PMID:12577059 PMID:16835903 PMID:22415584 More... NCBI chr19:10,981,398...10,997,062
Ensembl chr19:11,693,620...11,707,728 		JBrowse link
G RUVBL1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 3:125,120,524...125,200,859
Ensembl chr 3:132,486,229...132,528,918 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 3:125,091,916...125,111,238
Ensembl chr 3:132,457,005...132,476,935 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr10:12,136,907...12,175,765
Ensembl chr10:12,102,536...12,161,092 		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:25741868 PMID:28492532 NCBI chr 6:105,673,265...105,757,422
Ensembl chr 6:109,538,184...109,595,518 		JBrowse link
G XBP1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943 		JBrowse link
Polycystic Liver Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM
ClinVar		 PMID:9536098 PMID:15133510 PMID:17576681 PMID:20095989 PMID:24033266 More... NCBI chr 6:105,673,265...105,757,422
Ensembl chr 6:109,538,184...109,595,518 		JBrowse link
Polycystic Liver Disease 3 with or without Kidney Cysts 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 chr11:73,161,036...73,197,628
Ensembl chr11:76,784,096...76,819,764 		JBrowse link
Polycystic Liver Disease 4 with or without Kidney Cysts 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 chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Cysts 294
        polycystic liver disease 29
          Polycystic Liver Disease 1 26
          Polycystic Liver Disease 2 1
          Polycystic Liver Disease 3 with or without Kidney Cysts 1
          Polycystic Liver Disease 4 with or without Kidney Cysts 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal dominant disease 6185
                polycystic liver disease 29
                  Polycystic Liver Disease 1 26
                  Polycystic Liver Disease 2 1
                  Polycystic Liver Disease 3 with or without Kidney Cysts 1
                  Polycystic Liver Disease 4 with or without Kidney Cysts 1
paths to the root