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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
 xref: GARD:9457;   OMIM:PS174050
For additional species annotation, visit the Alliance of Genome Resources.


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 Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:25741868 PMID:26467025 PMID:31395617 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261 		JBrowse link
G Cdc25a cell division cycle 25A treatment ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar
RGD		 PMID:22155366 RGD:14700990 NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:28492532 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590 		JBrowse link
G Ganab glucosidase II alpha subunit ISO DNA:mutations:
ClinVar Annotator: match by term: Congenital cystic disease of liver
DNA:mutations: :		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:31462075 PMID:27259053 RGD:14975304, RGD:11352639 NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 treatment ISO protein:increased expression: cholangiocyte RGD PMID:28543567 PMID:28543567 RGD:14700993, RGD:14700993 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Hhex hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042 		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 chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:10227563 PMID:10768098 PMID:21105491 PMID:23227446 PMID:23247789 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:28492532 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar PMID:28492532 NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497 		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 chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277 		JBrowse link
G Onecut2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr18:57,831,647...57,881,287
Ensembl chr18:57,832,111...57,879,629 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO RGD PMID:21685914 PMID:9988265 RGD:14402033, RGD:14402035 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar
RGD		 PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... RGD:14700921 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISS
ISO		 OMIM:174050
ClinVar Annotator: match by term: Congenital cystic disease of liver		 MouseDO
ClinVar		 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492 		JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055 		JBrowse link
G Ucp2 uncoupling protein 2 ISS OMIM:174050 MouseDO NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Congenital cystic disease of liver ClinVar NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693 		JBrowse link
Polycystic Liver Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:31395617 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261 		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 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:28492532 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		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 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		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 NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Hdac6 histone deacetylase 6 treatment IEP
IMP
ISO		 mRNA,protein:increased expression:cholangiocytee,liver:
protein:increased expression:liver:		 RGD PMID:24434010 PMID:24434010 PMID:24434010 RGD:9681551, RGD:9681551, RGD:9681551 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Hhex hematopoietically expressed homeobox ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		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:10768098 PMID:21105491 PMID:23227446 PMID:23247789 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility IAGP
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		 ClinVar
RGD		 PMID:24706814 PMID:28492532 PMID:24706814 RGD:11063140 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar PMID:28492532 NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497 		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 chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277 		JBrowse link
G Onecut2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr18:57,831,647...57,881,287
Ensembl chr18:57,832,111...57,879,629 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:21744088 PMID:25263802 PMID:25333066 PMID:25741868 PMID:26467025 More... NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		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 chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		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 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1
DNA:splice site mutations, deletions:multiple
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:11047756 PMID:12529853 PMID:12577059 PMID:16835903 PMID:21685914 More... RGD:14402048 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492 		JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:21685914 PMID:25741868 PMID:28492532 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055 		JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease ClinVar NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693 		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
DNA:mutations:multiple		 OMIM
ClinVar
RGD		 PMID:15133510 PMID:24033266 PMID:25741868 PMID:28492532 PMID:15133510 RGD:14402049 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055 		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 | ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts OMIM
ClinVar		 PMID:25741868 PMID:26066342 PMID:28375157 PMID:28492532 NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302 		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 OMIM
ClinVar		 PMID:24706814 PMID:25741868 PMID:28492532 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of cellular proliferation 7257
      Cysts 284
        polycystic liver disease 29
          Polycystic Liver Disease 1 25
          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 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                polycystic liver disease 29
                  Polycystic Liver Disease 1 25
                  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