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
Accession: DOID:0050770
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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