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ONTOLOGY REPORT - ANNOTATIONS


Term:polycystic kidney disease
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Accession:DOID:0080322 term browser browse the term
Definition:Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.
Synonyms:exact_synonym: Polycystic Kidneys;   polycystic kidney;   polycystic kidney diseases;   polycystic renal disease;   polycystic renal diseases
 primary_id: MESH:D007690
 alt_id: DOID:9002730;   OMIA:000807;   RDO:0001382
For additional species annotation, visit the Alliance of Genome Resources.


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polycystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:7244164
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:12879406
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link 5 62,642,974 62,684,387 RGD:11534987
RGD:7207426
G Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease RGD:7207426
RGD:1300446
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:7241572
G Atf1 activating transcription factor 1 JBrowse link 7 141,882,261 141,924,790 RGD:2316104
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:6483074
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:7207414
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:8661641
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:8661641
G Ctsb cathepsin B JBrowse link 15 46,316,741 46,337,613 RGD:5686402
G Ctsh cathepsin H JBrowse link 8 97,439,155 97,458,293 RGD:5686402
G Epas1 endothelial PAS domain protein 1 JBrowse link 6 10,306,508 10,385,239 RGD:10395372
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:9681551
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:10395372
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
G Mks1 Meckel syndrome, type 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:7241222
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:7245545
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207426
RGD:7207451
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11534000
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:633540
RGD:8554872
RGD:11554173
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:8554872
RGD:13524568
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:1642440
RGD:8554872
G Pla2g4a phospholipase A2 group IVA JBrowse link 13 67,062,252 67,206,688 RGD:1642471
G Plcg1 phospholipase C, gamma 1 JBrowse link 3 156,727,642 156,758,307 RGD:625563
G Prkcsh protein kinase C substrate 80K-H JBrowse link 8 23,014,802 23,026,507 RGD:11554173
G Ptgs1 prostaglandin-endoperoxide synthase 1 JBrowse link 3 15,560,685 15,582,339 RGD:2300262
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:2300262
G Sec63 SEC63 homolog, protein translocation regulator JBrowse link 20 47,494,270 47,563,222 RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8657020
G Stat6 signal transducer and activator of transcription 6 JBrowse link 7 70,946,228 70,963,542 RGD:7243974
G Tnc tenascin C JBrowse link 5 79,789,686 79,874,555 RGD:4889614
autosomal dominant polycystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:2314213
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link 5 62,642,974 62,684,387 RGD:11554173
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:13592920
G Brd4 bromodomain containing 4 JBrowse link 7 14,222,101 14,303,055 RGD:11554173
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:8661641
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7204130
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:2289666
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:8661641
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4144854
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:7242198
G Ganab glucosidase II alpha subunit JBrowse link 1 225,096,558 225,116,384 RGD:11554173
G Havcr1 hepatitis A virus cellular receptor 1 JBrowse link 10 31,813,819 31,860,934 RGD:7245969
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6909172
G Itga8 integrin subunit alpha 8 JBrowse link 17 79,321,893 79,676,927 RGD:7257723
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:1641842
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207194
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:7207194
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:7245504
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207457
RGD:11554173
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:13592920
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:5131995
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:1601399
RGD:8554872
RGD:11554173
RGD:7175280
RGD:7175279
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:7175273
RGD:8554872
RGD:11554173
RGD:7175279
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:11554173
G Rps6kb1 ribosomal protein S6 kinase B1 JBrowse link 10 73,824,200 73,865,503 RGD:1643017
G Serping1 serpin family G member 1 JBrowse link 3 72,161,230 72,171,109 RGD:8661641
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242933
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:5131995
G Stat6 signal transducer and activator of transcription 6 JBrowse link 7 70,946,228 70,963,542 RGD:7243978
autosomal recessive polycystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:2325220
RGD:12879406
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:10040950
G Aqp1 aquaporin 1 JBrowse link 4 85,551,503 85,563,683 RGD:2307071
RGD:11554173
G Arl3 ADP ribosylation factor like GTPase 3 JBrowse link 1 266,287,015 266,333,099 RGD:13592920
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:13592920
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7175542
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7204130
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:2307071
RGD:11554173
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 JBrowse link 5 134,492,734 134,507,158 RGD:2303380
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 JBrowse link 5 134,196,910 134,207,888 RGD:2303380
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 JBrowse link 5 134,468,666 134,484,851 RGD:2303380
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 JBrowse link 5 133,978,953 134,008,255 RGD:2303380
G Cys1 cystin 1 JBrowse link 6 43,844,937 43,862,131 RGD:7175541
RGD:13592920
G Dzip1l DAZ interacting zinc finger protein 1-like JBrowse link 8 107,875,659 107,916,298 RGD:11554173
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:7207865
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:11554173
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:10040950
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207453
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:13592920
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:13592920
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:10040950
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
RGD:13592920
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:8554872
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:70439
RGD:8554872
RGD:11554173
RGD:1642441
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease RGD:70439
G Sclt1 sodium channel and clathrin linker 1 JBrowse link 2 128,523,376 128,675,668 RGD:13592920
G Slc4a2 solute carrier family 4 member 2 JBrowse link 4 7,264,677 7,282,355 RGD:2307071
RGD:11554173
G Src SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 3 153,547,807 153,595,643 RGD:11554173
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:13592920
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
RGD:7240710
RGD:11554173
Meckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Mks1 Meckel syndrome, type 1 JBrowse link 10 75,149,814 75,160,481 RGD:7240710
RGD:8554872
RGD:11535078
RGD:11535074
RGD:11535068
RGD:11535065
RGD:11063991
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
Meckel syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
RGD:7240710
RGD:13592920
Meckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11067331
Meckel syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535945
RGD:11535082
RGD:11535080
RGD:11535078
RGD:11068761
RGD:11063991
Meckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11070805
Meckel syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
Meckel syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
Medullary Cystic Kidney Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:7244289
RGD:11554173
RGD:8554872
RGD:7240710
Medullary Cystic Kidney Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Umod uromodulin JBrowse link 1 189,186,027 189,199,939 RGD:737832
RGD:8554872
RGD:7240710
polycystic kidney disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif3a kinesin family member 3a JBrowse link 10 38,918,705 38,953,958 RGD:13592920
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
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 14 6,602,004 6,645,257 RGD:8554872
RGD:7240710
polycystic kidney disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ganab glucosidase II alpha subunit JBrowse link 1 225,096,558 225,116,384 RGD:8554872
RGD:7240710
RGD:13592920
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
polycystic kidney disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:7240710
RGD:8554872
polycystic kidney disease 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dzip1l DAZ interacting zinc finger protein 1-like JBrowse link 8 107,875,659 107,916,298 RGD:8554872
RGD:7240710
RGD:13592920
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 11 81,741,342 81,757,806 RGD:8554872
RGD:7240710
Polycystic Kidney Disease, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207447
RGD:7207779
Renal Dysplasia Diffuse Cystic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          polycystic kidney disease 96
            Arima Syndrome 0
            Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
            Daneman Davy Mancer Syndrome 0
            Meckel syndrome 1 6
            Meckel syndrome 13 1
            Meckel syndrome 2 1
            Meckel syndrome 3 1
            Meckel syndrome 4 1
            Meckel syndrome 5 1
            Meckel syndrome 6 1
            Meckel-Like Cerebrorenodigital Syndrome 0
            Polycystic Kidney Disease, Type 1 1
            Polycystic Kidney, Cataract, and Congenital Blindness 0
            autosomal dominant polycystic kidney disease + 38
            autosomal recessive polycystic kidney disease + 33
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Urogenital Diseases 3755
        urinary system disease 1990
          kidney disease 1786
            cystic kidney disease 174
              polycystic kidney disease 96
                Arima Syndrome 0
                Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
                Daneman Davy Mancer Syndrome 0
                Meckel syndrome 1 6
                Meckel syndrome 13 1
                Meckel syndrome 2 1
                Meckel syndrome 3 1
                Meckel syndrome 4 1
                Meckel syndrome 5 1
                Meckel syndrome 6 1
                Meckel-Like Cerebrorenodigital Syndrome 0
                Polycystic Kidney Disease, Type 1 1
                Polycystic Kidney, Cataract, and Congenital Blindness 0
                autosomal dominant polycystic kidney disease + 38
                autosomal recessive polycystic kidney disease + 33
paths to the root