Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 dominant polycystic kidney disease
go back to main search page
Accession:DOID:898 term browser 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 dominant fashion. (DO)
Synonyms:exact_synonym: ADPKD;   POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1;   adult polycystic kidney disease;   congenital biliary ectasias
 primary_id: MESH:D016891
 xref: GARD:7419;   ICD10CM:Q61.3;   ICD9CM:753.12;   NCI:C75464;   NCI:C84578;   ORDO:730
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS MouseDO NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Fam13a family with sequence similarity 13, member A ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Ganab glucosidase II alpha subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD
ClinVar
NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,563,708...88,657,603
Ensembl chr 4:88,563,607...88,657,429
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,952,202...88,042,492
Ensembl chr 4:87,952,274...88,042,488
JBrowse link
G Herc6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,524,470...87,566,895
Ensembl chr 4:87,524,493...87,581,744
JBrowse link
G Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,693,304...5,743,157
Ensembl chr14:5,711,964...5,743,161
JBrowse link
G Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,751,697...5,766,809
Ensembl chr14:5,752,132...5,768,166
JBrowse link
G Ibsp integrin-binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,439,825...5,452,570
Ensembl chr14:5,439,829...5,452,693
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510
JBrowse link
G Klhl8 kelch-like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,807,795...5,853,325
Ensembl chr14:5,807,907...5,853,294
JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO protein:increased expression:serum, urine RGD PMID:20921623 PMID:22258321 RGD:126781837, RGD:126790531 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lrp2 LDL receptor related protein 2 IEP RGD PMID:11841627 RGD:1641842 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility IAGP DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25877301 PMID:18356167 RGD:7207457 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Nap1l5 nucleosome assembly protein 1-like 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,022,670...88,024,988
Ensembl chr 4:88,022,569...88,024,654
JBrowse link
G Nphp3 nephrocystin 3 ISS MouseDO NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,675,376...5,693,332
Ensembl chr14:5,675,382...5,693,142
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585
JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:mutations:exons, intron:multiple
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R3277C (mouse)
DNA:mutations:multiple
ClinVar
CTD
RGD
PMID:7581371 PMID:8004675 PMID:9521593 PMID:10200984 PMID:10364515 More... RGD:1601399, RGD:7175280, RGD:7175279 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel onset ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8650545 PMID:9536098 PMID:9573526 PMID:9949210 PMID:10411676 More... RGD:7175273, RGD:7175279 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More... NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,612,198...87,638,993
Ensembl chr 4:87,612,204...87,636,152
JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,501,859...87,505,494
Ensembl chr 4:87,501,859...87,505,494
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
JBrowse link
G Slc34a1 solute carrier family 34 member 1 disease_progression IEP mRNA, protein:altered expression:renal cortex (rat) RGD PMID:11004225 RGD:7242933 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,632,816...5,663,866
Ensembl chr14:5,632,569...5,663,865
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar
RGD
PMID:25741868 PMID:20926632 RGD:5131995 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
JBrowse link
G Tigd2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,414,366...88,417,458
Ensembl chr 4:88,414,518...88,417,785
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
JBrowse link
polycystic kidney disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:renal cortex (human)
mRNA:increased expression:kidney (mouse)
RGD PMID:19346236 PMID:16449663 RGD:7207447, RGD:7207779 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease 1 OMIM
ClinVar
PMID:11115377 PMID:12482949 PMID:16430766 PMID:17574468 PMID:17582161 More... NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
polycystic kidney disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Polycystic kidney disease 2 ClinVar
OMIM
PMID:8650545 PMID:9175744 PMID:9402976 PMID:9536098 PMID:9573526 More... NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
polycystic kidney disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Polycystic kidney disease 3 OMIM
ClinVar
PMID:25741868 PMID:27259053 NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease 3 ClinVar PMID:10364515 PMID:10854095 PMID:15772804 PMID:17582161 PMID:21115670 More... NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
Polycystic Kidney Disease 6 with or without Polycystic Liver Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE ClinVar
OMIM
PMID:25741868 PMID:29706351 NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Multiple Abnormalities 2447
            polycystic kidney disease 140
              autosomal dominant polycystic kidney disease 64
                Polycystic Kidney Disease 6 with or without Polycystic Liver Disease 1
                polycystic kidney disease 1 2
                polycystic kidney disease 2 1
                polycystic kidney disease 3 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                autosomal dominant polycystic kidney disease 64
                  Polycystic Kidney Disease 6 with or without Polycystic Liver Disease 1
                  polycystic kidney disease 1 2
                  polycystic kidney disease 2 1
                  polycystic kidney disease 3 2
paths to the root