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
Accession: DOID:0110861
browse the term
Definition: A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. (DO)
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
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Ace
angiotensin I converting enzyme
IMP IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:20229187 PMID:20798958
RGD:2325220 , RGD:12879406
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Akt1
AKT serine/threonine kinase 1
IDA
protein:increased serine phosphorylation:cholangiocyte
RGD
PMID:24498161
RGD:10040950
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Aqp1
aquaporin 1
IEP ISO
mRNA, protein:increased expression, altered location:bile duct, epithelial cell CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18988797 PMID:18988797
RGD:2307071
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Arl3
ADP ribosylation factor like GTPase 3
ISS
OMIM:263200
MouseDO
NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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Bicc1
BicC family RNA binding protein 1
ISS
OMIM:263200
MouseDO
NCBI chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776
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C3
complement C3
ISO
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:17960140 PMID:17960140
RGD:7175542 , RGD:7175542
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cd14
CD14 molecule
severity
ISO
RGD
PMID:20555320 PMID:20555320
RGD:7204130 , RGD:7204130
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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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 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
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Cftr
CF transmembrane conductance regulator
IEP ISO
mRNA, protein:increased expression:bile duct epithelium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18988797 PMID:18988797
RGD:2307071
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Cyp4a1
cytochrome P450, family 4, subfamily a, polypeptide 1
IEP
mRNA:increased expression:kidney
RGD
PMID:19129252
RGD:2303380
NCBI chr 5:129,123,323...129,137,464
Ensembl chr 5:129,123,336...129,137,464
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Cyp4a2
cytochrome P450, family 4, subfamily a, polypeptide 2
IEP
mRNA:increased expression:kidney
RGD
PMID:19129252
RGD:2303380
NCBI chr 5:128,922,355...128,934,188
Ensembl chr 5:128,923,615...128,934,165
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Cyp4a3
cytochrome P450, family 4, subfamily a, polypeptide 3
IEP
mRNA:increased expression:kidney
RGD
PMID:19129252
RGD:2303380
NCBI chr 5:129,097,571...129,115,488
Ensembl chr 5:129,097,926...129,115,463
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Cyp4a8
cytochrome P450, family 4, subfamily a, polypeptide 8
IEP
mRNA:increased expression:kidney
RGD
PMID:19129252
RGD:2303380
NCBI chr 5:128,702,130...128,733,476
Ensembl chr 5:128,702,131...128,733,476
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Cys1
cystin 1
ISO ISS
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease OMIM:263200
ClinVar MouseDO RGD
PMID:25741868 PMID:34521872 PMID:11854326
RGD:7175541
NCBI chr 6:41,300,836...41,318,071
Ensembl chr 6:41,300,836...41,318,071
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar
PMID:16199547 PMID:23339108 PMID:28492532 PMID:29068549 PMID:32753734
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Dzip1l
DAZ interacting zinc finger protein 1-like
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:263200
CTD MouseDO
PMID:28530676
NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9486961
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Eln
elastin
IEP
RGD
PMID:21478483
RGD:7207865
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Gpbar1
G protein-coupled bile acid receptor 1
ISO
mRNA,protein:increased expression: cholangiocyte
RGD
PMID:28543567
RGD:14700993
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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Ift88
intraflagellar transport 88
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:263200
CTD MouseDO
PMID:8191288 PMID:8608416
NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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Mtor
mechanistic target of rapamycin kinase
IDA
protein:increased serine phosphorylation:cholangiocyte
RGD
PMID:24498161
RGD:10040950
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
mRNA:increased expression:kidney (mouse)
RGD
PMID:3479800
RGD:7207453
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nek1
NIMA-related kinase 1
ISS
OMIM:263200
MouseDO
NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Nek8
NIMA-related kinase 8
ISS
OMIM:263200
MouseDO
NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
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Nphp3
nephrocystin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12089381
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Panx1
Pannexin 1
IEP
RGD
PMID:31630543
RGD:14995937
NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
IEP
protein:increased expression:cholangiocyte
RGD
PMID:24498161
RGD:10040950
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISS ISO
OMIM:263200 ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
MouseDO ClinVar
PMID:25741868 PMID:26467025 PMID:29100090
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: Autosomal recessive polycystic kidney disease
ClinVar
PMID:25741868
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
susceptibility severity
ISO ISS IAGP IEP
DNA:missense mutations, nonsense mutations: :multiple OMIM:263200 ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I DNA:missense mutations:cds: DNA:deletion:exon: CTD Direct Evidence: marker/mechanism DNA:splice site mutation:intron:IVS35-2A>T protein:decreased expression:kidney
MouseDO ClinVar CTD RGD
PMID:1189128 PMID:3239877 PMID:9536098 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:16199547 PMID:16523049 PMID:16632497 PMID:16876319 PMID:17576681 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:22415584 PMID:22882926 PMID:22995991 PMID:23041322 PMID:23265383 PMID:23389334 PMID:23582048 PMID:23757202 PMID:24009235 PMID:24033266 PMID:24121792 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25034658 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25326637 PMID:25525159 PMID:25589618 PMID:25640679 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25741880 PMID:25741895 PMID:25741913 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:28166811 PMID:28170084 PMID:28252636 PMID:28364132 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:28933340 PMID:29095814 PMID:29520754 PMID:29643536 PMID:29801666 PMID:29947050 PMID:29956005 PMID:30017326 PMID:30260789 PMID:30275481 PMID:30343465 PMID:30366773 PMID:30507656 PMID:30566001 PMID:30586318 PMID:30595564 PMID:30650191 PMID:30655312 PMID:30773290 PMID:30787879 PMID:31010483 PMID:31130284 PMID:31395954 PMID:31589614 PMID:31624253 PMID:31730820 PMID:31738409 PMID:31813136 PMID:31844813 PMID:31938409 PMID:31980526 PMID:32203225 PMID:32256442 PMID:32359821 PMID:32384486 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32576985 PMID:32799815 PMID:32939031 PMID:33059616 PMID:33059727 PMID:33112055 PMID:33123899 PMID:33226606 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33569422 PMID:33716212 PMID:33845788 PMID:33940108 PMID:34008892 PMID:34032358 PMID:34405919 PMID:34426522 PMID:34536170 PMID:35627109 PMID:35715958 PMID:35812281 PMID:11919560 PMID:11919560 PMID:12874454 PMID:17519956 PMID:11919560 PMID:14983006 More...
RGD:70439 , RGD:70439 , RGD:11062506 , RGD:14700917 , RGD:70439 , RGD:1642441
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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Pkhd1pck
polycystic kidney and hepatic disease 1,polycystic kidney disease
IAGP
RGD
PMID:11919560
RGD:70439
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Sclt1
sodium channel and clathrin linker 1
ISS
OMIM:263200
MouseDO
NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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Shoc2
SHOC2 leucine-rich repeat scaffold protein
ISO
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
ClinVar
PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26467025 PMID:26519477 PMID:27466182 PMID:28492532 PMID:30348783 PMID:34008892 More...
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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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 RGD
PMID:18988797 PMID:18988797
RGD:2307071
NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18385429
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305 PMID:11095650 PMID:15052665
RGD:14995942 , RGD:1300514 , RGD:15014788
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305 PMID:11095650 PMID:15052665
RGD:14995942 , RGD:1300514 , RGD:15014788
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Tsc1
TSC complex subunit 1
ISS
OMIM:263200
MouseDO
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Alg9
ALG9, alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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Pkhd1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
ISO ISS
OMIM:263200 ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4
OMIM MouseDO ClinVar
PMID:1189128 PMID:9536098 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:16199547 PMID:16523049 PMID:16632497 PMID:16876319 PMID:17576681 PMID:18414213 PMID:18503009 PMID:19021639 PMID:19176689 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:20460933 PMID:21228398 PMID:21274727 PMID:21493627 PMID:22034641 PMID:22415584 PMID:22882926 PMID:23389334 PMID:23582048 PMID:24033266 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25034658 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25326637 PMID:25525159 PMID:25589618 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25741895 PMID:25771912 PMID:25966130 PMID:26139440 PMID:26385851 PMID:26489027 PMID:26489029 PMID:26633542 PMID:26673778 PMID:26695994 PMID:26721323 PMID:26862157 PMID:27151922 PMID:27225849 PMID:27491411 PMID:27577217 PMID:27595491 PMID:27752906 PMID:27894351 PMID:28166811 PMID:28170084 PMID:28252636 PMID:28364132 PMID:28375157 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:28933340 PMID:29095814 PMID:29520754 PMID:29643536 PMID:29801666 PMID:29947050 PMID:29956005 PMID:30275481 PMID:30343465 PMID:30507656 PMID:30586318 PMID:30595564 PMID:30650191 PMID:30655312 PMID:30773290 PMID:30787879 PMID:31010483 PMID:31130284 PMID:31395954 PMID:31589614 PMID:31730820 PMID:31738409 PMID:31813136 PMID:31844813 PMID:31938409 PMID:31980526 PMID:32203225 PMID:32256442 PMID:32359821 PMID:32384486 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32576985 PMID:32799815 PMID:32901917 PMID:32939031 PMID:33059727 PMID:33112055 PMID:33123899 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33569422 PMID:33716212 PMID:33845788 PMID:33940108 PMID:34008892 PMID:34032358 PMID:34536170 PMID:35627109 PMID:35715958 PMID:35812281 More...
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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Shoc2
SHOC2 leucine-rich repeat scaffold protein
ISO
ClinVar Annotator: match by term: Polycystic kidney disease 4
ClinVar
PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26467025 PMID:26519477 PMID:27466182 PMID:28492532 PMID:30348783 PMID:34008892 More...
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Dzip1l
DAZ interacting zinc finger protein 1-like
ISO
ClinVar Annotator: match by term: Polycystic kidney disease 5
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28530676
NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988
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