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: 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
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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
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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
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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
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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
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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 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
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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
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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 PMID:21775974 PMID:22114815 PMID:24033266 PMID:24041679 PMID:24097065 PMID:24429398 PMID:24897035 PMID:25536396 PMID:25700310 PMID:25741868 PMID:26467025 PMID:26899772 PMID:28492532 PMID:30259503 More...
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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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 PMID:24097065 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29355436 PMID:30191603 PMID:31264968 PMID:31595705 More...
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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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
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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
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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
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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
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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
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Pkd1
polycystin 1, transient receptor potential channel interacting
severity
ISO
RGD
PMID:21685914 PMID:9988265
RGD:14402033 , RGD:14402035
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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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
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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 PMID:12874454 PMID:14741187 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16876319 PMID:19176689 PMID:19914852 PMID:19940839 PMID:20413436 PMID:20460933 PMID:21228398 PMID:21274727 PMID:22415584 PMID:24162162 PMID:24984783 PMID:25124979 PMID:25193386 PMID:25326637 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:26489027 PMID:26489029 PMID:26673778 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27752906 PMID:27894351 PMID:28166811 PMID:28375157 PMID:28492532 PMID:28578020 PMID:28862642 PMID:29801666 PMID:30507656 PMID:30773290 PMID:31130284 PMID:31738409 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:33112055 PMID:33123899 PMID:33426401 PMID:33532864 PMID:33845788 PMID:33940108 PMID:18202188 More...
RGD:14700921
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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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
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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
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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:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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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
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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 PMID:21775974 PMID:22114815 PMID:24033266 PMID:24041679 PMID:24097065 PMID:24429398 PMID:24897035 PMID:25536396 PMID:25700310 PMID:25741868 PMID:26467025 PMID:26899772 PMID:28492532 PMID:30259503 More...
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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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 PMID:24097065 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29355436 PMID:30191603 PMID:31264968 PMID:31595705 More...
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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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
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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
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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
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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 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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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
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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
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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 PMID:31844813 PMID:33532864 More...
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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
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 PMID:12874454 PMID:14741187 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16876319 PMID:19176689 PMID:19914852 PMID:19940839 PMID:20413436 PMID:20460933 PMID:21228398 PMID:21274727 PMID:22415584 PMID:24162162 PMID:24984783 PMID:25124979 PMID:25193386 PMID:25326637 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:26489027 PMID:26489029 PMID:26673778 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27752906 PMID:27894351 PMID:28166811 PMID:28375157 PMID:28492532 PMID:28578020 PMID:28862642 PMID:29801666 PMID:30507656 PMID:30773290 PMID:31130284 PMID:31738409 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:33112055 PMID:33123899 PMID:33426401 PMID:33532864 PMID:33845788 PMID:33940108 More...
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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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 PMID:22415584 PMID:24719335 PMID:25741868 PMID:26046366 PMID:28492532 PMID:29038287 PMID:15057895 More...
RGD:14402048
NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
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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
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
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
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
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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
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
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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 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
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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
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