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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.

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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: Polycystic liver disease ClinVar PMID:25741868 PMID:26467025 PMID:31395617 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478 		JBrowse link
G Cdc25a cell division cycle 25A treatment ISO RGD PMID:22155366 RGD:14700990 NCBI chr 8:117,953,223...117,971,552
Ensembl chr 8:117,953,444...117,971,519 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Polycystic liver disease
DNA:mutations: :		 ClinVar PMID:27259053, PMID:31462075 RGD:11352639, RGD:14975304 NCBI chr 1:225,096,558...225,116,384
Ensembl chr 1:225,096,598...225,116,378 		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 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO RGD PMID:21685914, PMID:9988265 RGD:14402033, RGD:14402035 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Polycystic liver disease ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:19176689 PMID:19914852 PMID:20413436 PMID:20460933 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:28375157 PMID:28492532, PMID:18202188 RGD:14700921 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISS OMIM:174050 MouseDO NCBI chr 8:23,014,802...23,026,507
Ensembl chr 8:23,014,956...23,026,503 		JBrowse link
G Ucp2 uncoupling protein 2 ISS OMIM:174050 MouseDO NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744 		JBrowse link
Polycystic Liver Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		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:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO
IAGP		 ClinVar Annotator: match by term: Polycystic liver disease 1
DNA:missense mutation:cds:p.R118W (3562C>T) (human)		 ClinVar PMID:24706814, PMID:24706814 RGD:11063140 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:25741868 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Polycystic liver disease 1 ClinVar PMID:25741868 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257 		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:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:20413436 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:28375157 PMID:28492532 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISO ClinVar Annotator: match by term: Polycystic liver disease 1
DNA:splice site mutations, deletions:multiple
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11047756 PMID:12529853 PMID:12577059 PMID:16835903 PMID:21685914 PMID:22415584 PMID:24719335 PMID:25741868 PMID:26046366 PMID:28492532 PMID:29038287, PMID:15057895 RGD:14402048 NCBI chr 8:23,014,802...23,026,507
Ensembl chr 8:23,014,956...23,026,503 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic liver disease 1		 CTD
ClinVar		 PMID:21685914 NCBI chr20:47,494,270...47,563,222
Ensembl chr20:47,494,270...47,563,222 		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 OMIM:617004
ClinVar Annotator: match by term: Polycystic liver disease 2
DNA:mutations:multiple		 ClinVar
OMIM		 PMID:15133510 PMID:25741868 PMID:28492532, PMID:15133510 RGD:14402049 NCBI chr20:47,494,270...47,563,222
Ensembl chr20:47,494,270...47,563,222 		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
OMIM		 PMID:25741868 PMID:28375157 PMID:28492532 NCBI chr 1:162,342,061...162,362,139
Ensembl chr 1:162,342,051...162,362,141 		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 OR WITHOUT KIDNEY CYSTS
ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts		 ClinVar
OMIM		 PMID:24706814 PMID:25741868 PMID:28492532 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of cellular proliferation 5907
      Cysts 259
        polycystic liver disease 16
          Polycystic Liver Disease 1 9
          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 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                polycystic liver disease 16
                  Polycystic Liver Disease 1 9
                  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