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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant polycystic kidney disease
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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;   ORDO:730
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant polycystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angpt2 angiopoietin 2 JBrowse link NW_004955403 54,139,823 54,193,740 RGD:9068941
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link NW_004955419 26,801,924 26,852,116 RGD:9068941
G Brd4 bromodomain containing 4 JBrowse link NW_004955495 7,959,033 7,989,216 RGD:9068941
G C9 complement C9 JBrowse link NW_004955426 23,790,792 23,824,117 RGD:9068941
G Cd14 CD14 molecule JBrowse link NW_004955418 73,736 75,345 RGD:9068941
G Cdkn1a cyclin dependent kinase inhibitor 1A JBrowse link NW_004955437 6,254,638 6,261,278 RGD:9068941
G Cfb complement factor B JBrowse link NW_004955437 461,235 466,908 RGD:9068941
G Edn1 endothelin 1 JBrowse link NW_004955465 2,287,906 2,314,945 RGD:9068941
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link NW_004955523 307,181 310,728 RGD:9068941
G Ganab glucosidase II alpha subunit JBrowse link NW_004955599 556,510 569,891 RGD:9068941
G Gpbar1 G protein-coupled bile acid receptor 1 JBrowse link NW_004955453 15,109,711 15,112,438 RGD:9068941
G Havcr1 hepatitis A virus cellular receptor 1 JBrowse link NW_004955408 11,047,679 11,070,492 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Itga8 integrin subunit alpha 8 JBrowse link NW_004955429 11,932,764 12,120,757 RGD:9068941
G Lrp2 LDL receptor related protein 2 JBrowse link NW_004955449 5,155,109 5,314,886 RGD:9068941
G Lrp5 LDL receptor related protein 5 JBrowse link NW_004955422 17,394,371 17,475,244 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004955445 11,295,500 11,303,322 RGD:9068941
G Mtor mechanistic target of rapamycin kinase JBrowse link NW_004955486 2,487,642 2,599,694 RGD:9068941
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link NW_004955461 2,714,022 2,718,872 RGD:9068941
G Pitx2 paired like homeodomain 2 JBrowse link NW_004955457 15,803,493 15,823,193 RGD:9068941
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link NW_004955442 15,132,555 15,178,377 RGD:9068941
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link NW_004955474 1,831,221 1,868,170 RGD:9068941
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link NW_004955411 5,988,100 6,434,369 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004955429 14,814,690 14,936,869 RGD:9068941
G Rps6kb1 ribosomal protein S6 kinase B1 JBrowse link NW_004955451 3,181,085 3,225,610 RGD:9068941
G Serping1 serpin family G member 1 JBrowse link NW_004955511 2,545,337 2,557,850 RGD:9068941
G Slc34a1 solute carrier family 34 member 1 JBrowse link NW_004955408 29,626,775 29,640,811 RGD:9068941
G Spp1 secreted phosphoprotein 1 JBrowse link NW_004955474 1,914,477 1,922,025 RGD:9068941
G Stat6 signal transducer and activator of transcription 6 JBrowse link NW_004955458 4,833,417 4,847,956 RGD:9068941
Medullary Cystic Kidney Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Muc1 mucin 1, cell surface associated JBrowse link NW_004955545 1,657,728 1,662,112 RGD:7240710
Medullary Cystic Kidney Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Umod uromodulin JBrowse link NW_004955442 3,986,936 4,001,155 RGD:7240710
polycystic kidney disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link NW_004955461 2,714,022 2,718,872 RGD:9068941
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link NW_004955442 15,132,555 15,178,377 RGD:7240710
polycystic kidney disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link NW_004955474 1,831,221 1,868,170 RGD:7240710
polycystic kidney disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ganab glucosidase II alpha subunit JBrowse link NW_004955599 556,510 569,891 RGD:7240710
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link NW_004955442 15,132,555 15,178,377 RGD:9068941
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link NW_004955411 5,988,100 6,434,369 RGD:9068941
Polycystic Kidney Disease 6 with or without Polycystic Liver Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 JBrowse link NW_004955420 21,097,292 21,113,053 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11744
    Developmental Diseases 8252
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7201
        genetic disease 6784
          polycystic kidney disease 80
            autosomal dominant polycystic kidney disease 32
              Medullary Cystic Kidney Disease 1 1
              Medullary Cystic Kidney Disease 2 1
              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 3
Path 2
Term Annotations click to browse term
  disease 11744
    Developmental Diseases 8252
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7201
        genetic disease 6784
          monogenic disease 4934
            autosomal genetic disease 4056
              autosomal dominant disease 2531
                autosomal dominant polycystic kidney disease 32
                  Medullary Cystic Kidney Disease 1 1
                  Medullary Cystic Kidney Disease 2 1
                  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 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.