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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:autosomal recessive polycystic kidney disease
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Accession:DOID:0110861 term browser browse the term
Definition:A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.
Synonyms:exact_synonym: ARPKD;   Polycystic Kidney Disease, Infantile, Type I;   autosomal recessive polycystic kidney
 narrow_synonym: congenital hepatic fibrosis
 primary_id: MESH:D017044
 xref: GARD:8378;   ICD10CM:Q61.1;   ICD9CM:753.14;   NCI:C84579;   ORDO:731
For additional species annotation, visit the Alliance of Genome Resources.

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autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IMP
IEP		 mRNA:increased expression:kidney (rat) RGD PMID:20229187, PMID:20798958 RGD:2325220, RGD:12879406 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258 		JBrowse link
G Aqp1 aquaporin 1 IEP
ISO		 mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism		 CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360 		JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr 1:266,287,015...266,333,099
Ensembl chr 1:266,287,017...266,333,105 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408 		JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140, PMID:17960140 RGD:7175542, RGD:7175542 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320, PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153 		JBrowse link
G Cdc25a cell division cycle 25A treatment IEP
IMP
ISO		 protein:increased expression:cholangiocyte: RGD PMID:22155366, PMID:22155366, PMID:22155366, PMID:22155366 RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 NCBI chr 8:117,953,223...117,971,552
Ensembl chr 8:117,953,444...117,971,519 		JBrowse link
G Cftr CF transmembrane conductance regulator IEP
ISO		 mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism		 CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,492,734...134,507,158
Ensembl chr 5:134,492,756...134,507,154 		JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,196,910...134,207,888
Ensembl chr 5:134,196,912...134,207,863 		JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,468,666...134,484,851
Ensembl chr 5:134,469,270...134,484,839 		JBrowse link
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:133,978,953...134,008,255
Ensembl chr 5:133,978,954...134,008,255 		JBrowse link
G Cys1 cystin 1 ISO
ISS		 OMIM:263200 MouseDO PMID:11854326 RGD:7175541 NCBI chr 6:43,844,937...43,862,131
Ensembl chr 6:43,844,937...43,862,131 		JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr 8:107,875,659...107,916,298
Ensembl chr 8:107,875,991...107,916,294 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796 		JBrowse link
G Eln elastin IEP RGD PMID:21478483 RGD:7207865 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594 		JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288 PMID:8608416 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240 		JBrowse link
G Nek1 NIMA-related kinase 1 ISS OMIM:263200 MouseDO NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421 		JBrowse link
G Nek8 NIMA-related kinase 8 ISS OMIM:263200 MouseDO NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143 		JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745 		JBrowse link
G Panx1 Pannexin 1 IEP RGD PMID:31630543 RGD:14995937 NCBI chr 8:13,567,185...13,606,040
Ensembl chr 8:13,566,739...13,606,040 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha IEP protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200		 ClinVar
MouseDO		 PMID:10729710 PMID:11115377 PMID:11967008 PMID:17574468 PMID:17582161 PMID:19515475 PMID:21551026 PMID:22031115 PMID:22508176 PMID:23431072 PMID:24374109 PMID:25333066 PMID:25741868 PMID:26453610 PMID:26467025 PMID:26632257 PMID:27782177 PMID:29100090 PMID:29338003 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: Autosomal recessive polycystic kidney disease ClinVar PMID:12707387 PMID:25741868 PMID:28492532 PMID:29529603 PMID:30333007 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 susceptibility
severity		 ISO
IAGP
IEP		 DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
DNA:missense mutations:cds:
DNA:deletion:exon:
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
ClinVar Annotator: match by OMIM:263200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
DNA:splice site mutation:intron:IVS35-2A>T
protein:decreased expression:kidney		 ClinVar
CTD		 PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:14741187 PMID:14971004 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16632497 PMID:16876319 PMID:18414213 PMID:18503009 PMID:18988797 PMID:19021639 PMID:19176689 PMID:19524688 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:20460933 PMID:20575693 PMID:21228398 PMID:21274727 PMID:21493627 PMID:21685914 PMID:21790888 PMID:21945273 PMID:22034641 PMID:22995991 PMID:23265383 PMID:23389334 PMID:23582048 PMID:23757202 PMID:24033266 PMID:24121792 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25326637 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25771912 PMID:25966130 PMID:26139440 PMID:26385851 PMID:26489027 PMID:26489029 PMID:26633542 PMID:26673778 PMID:26695994 PMID:26721323 PMID:27151922 PMID:27225849 PMID:27491411 PMID:27577217 PMID:27595491 PMID:27752906 PMID:27894351 PMID:28170084 PMID:28375157 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:28933340 PMID:29520754 PMID:29643536 PMID:29801666 PMID:29956005 PMID:30507656 PMID:30510609 PMID:30566001 PMID:30650191 PMID:31395954 PMID:32576985, PMID:11919560, PMID:12874454, PMID:17519956, PMID:11919560, PMID:14983006 RGD:70439, RGD:11062506, RGD:14700917, RGD:70439, RGD:1642441 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease IAGP RGD PMID:11919560 RGD:70439
G Sclt1 sodium channel and clathrin linker 1 ISS OMIM:263200 MouseDO NCBI chr 2:128,523,376...128,675,668
Ensembl chr 2:128,523,636...128,675,408 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 IEP
ISO		 mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism		 CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305, PMID:11095650, PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305, PMID:11095650, PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788
G Tsc1 TSC complex subunit 1 ISS OMIM:263200 MouseDO NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145 		JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia 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: Gillessen-kaesbach-nishimura syndrome ClinVar
OMIM		 PMID:25741868 PMID:25966638 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478 		JBrowse link
polycystic kidney disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Polycystic kidney disease 4
ClinVar Annotator: match by term: Abnormality of the intrahepatic bile duct
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE		 OMIM
ClinVar		 PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:19940839 PMID:20413436 PMID:21274727 PMID:23582048 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25124979 PMID:25701400 PMID:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28375157 PMID:28492532 PMID:28578020 PMID:29956005 NCBI chr 9:26,164,969...26,736,704 JBrowse link
polycystic kidney disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1l DAZ interacting zinc finger protein 1-like ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 5 ClinVar
OMIM		 PMID:28530676 NCBI chr 8:107,875,659...107,916,298
Ensembl chr 8:107,875,991...107,916,294 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Multiple Abnormalities 1762
            polycystic kidney disease 137
              autosomal recessive polycystic kidney disease 40
                Gillessen-Kaesbach-Nishimura Dysplasia 1
                Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                polycystic kidney disease 4 1
                polycystic kidney disease 5 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 recessive disease 2668
                autosomal recessive polycystic kidney disease 40
                  Gillessen-Kaesbach-Nishimura Dysplasia 1
                  Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                  polycystic kidney disease 4 1
                  polycystic kidney disease 5 1
paths to the root