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ONTOLOGY REPORT - ANNOTATIONS


Term:cystic kidney disease
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Accession:DOID:2975 term browser browse the term
Definition:A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).
Synonyms:exact_synonym: Cystic Kidney;   Cystic Kidneys;   Cystic Renal Disease;   Cystic Renal Diseases;   KIDNEY CYST;   cystic kidney diseases;   renal Cyst
 primary_id: MESH:D052177;   RDO:0000678
For additional species annotation, visit the Alliance of Genome Resources.


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cystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link 5 62,642,974 62,684,387 RGD:11554173
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:11553938
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:13592920
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:13592920
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:13592920
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:13592920
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:11554173
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Lama5 laminin subunit alpha 5 JBrowse link 3 175,553,042 175,601,112 RGD:13592920
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:11352488
G Pax2 paired box 2 JBrowse link 1 264,493,579 264,585,073 RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
G Robo1 roundabout guidance receptor 1 JBrowse link 11 9,079,291 10,146,302 RGD:13592920
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11073359
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 13 94,888,046 95,100,833 RGD:11554173
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:13592920
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:11554173
RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:13592920
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:8554872
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
RGD:8554872
G Gpbar1 G protein-coupled bile acid receptor 1 JBrowse link 9 81,555,914 81,560,931 RGD:14700993
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 Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:11553546
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 ciliary IPT domain containing 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 Cdc25a cell division cycle 25A JBrowse link 8 117,953,223 117,971,552 RGD:14700990
G Cftr CF 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 Gpbar1 G protein-coupled bile acid receptor 1 JBrowse link 9 81,555,914 81,560,931 RGD:14700993
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 Panx1 Pannexin 1 JBrowse link 8 13,567,185 13,606,040 RGD:14995937
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 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:70439
RGD:8554872
RGD:11062506
RGD:14700917
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 Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:14995942
G Tmem67wpk transmembrane protein 67; wpk mutant RGD:14995942
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:13592920
CAKUT2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13446406
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204792
G Tbx18 T-box transcription factor 18 JBrowse link 8 95,359,354 95,387,363 RGD:8554872
RGD:7240710
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204792
diffuse cystic renal dysplasia 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
RGD:7240710
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
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Umod uromodulin JBrowse link 1 189,186,027 189,199,939 RGD:7240710
RGD:8554872
Joubert syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
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 Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:7240710
RGD:8554872
RGD:11554173
G Micall2 MICAL-like 2 JBrowse link 12 16,988,013 17,016,794 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:11554173
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
Joubert 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:11561919
Joubert syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:7246903
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
RGD:7246903
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:11068164
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
RGD:11537350
maturity-onset diabetes of the young type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:8554872
G Hnf1b HNF1 homeobox B JBrowse link 10 71,159,863 71,218,902 RGD:7240710
RGD:8554872
G Pax2 paired box 2 JBrowse link 1 264,493,579 264,585,073 RGD:8554872
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 MKS transition zone complex subunit 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
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
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
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
Meckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Meckel Syndrome, Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif14 kinesin family member 14 JBrowse link 13 53,350,073 53,421,992 RGD:8554872
RGD:7240710
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
Medullary Sponge Kidney term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:14700919
Multicystic Dysplastic Kidney term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13442498
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Pdgfa platelet derived growth factor subunit A JBrowse link 12 17,734,141 17,756,186 RGD:2298582
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
nephronophthisis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad11 acyl-CoA dehydrogenase family, member 11 JBrowse link 8 112,594,758 112,676,275 RGD:8554872
G Ackr4 atypical chemokine receptor 4 JBrowse link 8 112,643,838 112,651,668 RGD:8554872
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:13592920
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cntrl centriolin JBrowse link 3 14,299,441 14,371,681 RGD:13592920
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 JBrowse link 8 112,697,907 112,830,445 RGD:8554872
G Fam186b family with sequence similarity 186, member B JBrowse link 7 140,935,645 140,951,071 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G Glis2 GLIS family zinc finger 2 JBrowse link 10 11,154,459 11,177,063 RGD:8554872
G Incenp inner centromere protein JBrowse link 1 225,923,448 225,953,384 RGD:8554872
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
G Invs inversin JBrowse link 5 64,031,131 64,180,830 RGD:8554872
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:11537341
RGD:8554872
G Mall mal, T-cell differentiation protein-like JBrowse link 3 120,272,583 120,307,090 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
RGD:11065524
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
RGD:11065524
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
RGD:11065524
G Pias1 protein inhibitor of activated STAT, 1 JBrowse link 8 67,771,720 67,869,015 RGD:8554872
G Rbm48 RNA binding motif protein 48 JBrowse link 4 27,698,319 27,708,572 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
RGD:11073359
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Uba5 ubiquitin-like modifier activating enzyme 5 JBrowse link 8 112,578,607 112,594,192 RGD:8554872
G Wwtr1 WW domain containing transcription regulator 1 JBrowse link 2 147,577,149 147,693,033 RGD:13592920
nephronophthisis 1 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:8554872
G Mall mal, T-cell differentiation protein-like JBrowse link 3 120,272,583 120,307,090 RGD:8554872
G Mtln mitoregulin JBrowse link 3 120,372,665 120,373,523 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
RGD:11537341
RGD:7246904
RGD:7246902
RGD:7246900
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
nephronophthisis 11 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:11535942
RGD:11535941
nephronophthisis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
nephronophthisis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
RGD:11553845
RGD:11552603
nephronophthisis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:7240710
RGD:8554872
nephronophthisis 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep164 centrosomal protein 164 JBrowse link 8 50,069,282 50,132,477 RGD:7240710
RGD:8554872
nephronophthisis 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link 5 62,642,974 62,684,387 RGD:7240710
RGD:8554872
nephronophthisis 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep83 centrosomal protein 83 JBrowse link 7 35,739,553 35,847,618 RGD:7240710
RGD:8554872
nephronophthisis 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc2 doublecortin domain containing 2 JBrowse link 17 41,838,201 42,031,265 RGD:7240710
RGD:8554872
nephronophthisis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erp44 endoplasmic reticulum protein 44 JBrowse link 5 63,937,866 64,030,827 RGD:8554872
G Invs inversin JBrowse link 5 64,031,131 64,180,830 RGD:7240710
RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
nephronophthisis 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapkbp1 mitogen activated protein kinase binding protein 1 JBrowse link 3 111,767,126 111,817,103 RGD:8554872
RGD:7240710
nephronophthisis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
RGD:11071511
nephronophthisis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:7240710
RGD:8554872
RGD:11537355
RGD:11537342
RGD:11537341
nephronophthisis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glis2 GLIS family zinc finger 2 JBrowse link 10 11,154,459 11,177,063 RGD:7240710
RGD:8554872
Nephronophthisis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
nephronophthisis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:7240710
RGD:8554872
nephronophthisis-like nephropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chadl chondroadherin-like JBrowse link 7 122,915,847 122,929,127 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:8554872
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 JBrowse link 7 122,896,860 122,918,025 RGD:8554872
G Rangap1 RAN GTPase activating protein 1 JBrowse link 7 122,939,266 122,967,178 RGD:8554872
G Rbx1 ring-box 1 JBrowse link 7 122,700,849 122,710,907 RGD:8554872
G Xpnpep3 X-prolyl aminopeptidase 3 JBrowse link 7 122,636,252 122,686,983 RGD:7240710
RGD:8554872
G Zc3h7b zinc finger CCCH-type containing 7B JBrowse link 7 122,978,999 123,027,166 RGD:8554872
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 Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
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 Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
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 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 Deup1 deuterosome assembly protein 1 JBrowse link 8 14,094,742 14,157,232 RGD:8554872
G Dhx34 DExH-box helicase 34 JBrowse link 1 78,069,260 78,112,488 RGD:8554872
G Epas1 endothelial PAS domain protein 1 JBrowse link 6 10,306,508 10,385,239 RGD:10395372
G Ganab glucosidase II alpha subunit JBrowse link 1 225,096,558 225,116,384 RGD:11352639
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:14700993
G Gpbar1 G protein-coupled bile acid receptor 1 JBrowse link 9 81,555,914 81,560,931 RGD:14700993
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 Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
G Mks1 MKS transition zone complex subunit 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 Nppb natriuretic peptide B JBrowse link 5 164,796,176 164,797,538 RGD:14701038
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 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 ciliary IPT domain containing 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 Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:14701037
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 Ptma prothymosin alpha JBrowse link 9 93,545,396 93,549,436 RGD:13592920
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
G Tulp3 TUB like protein 3 JBrowse link 4 161,636,084 161,677,807 RGD:13592920
G Xylt2 xylosyltransferase 2 JBrowse link 10 82,386,003 82,399,485 RGD:13592920
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 Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207447
RGD:7207779
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:7240710
RGD:8554872
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:13592920
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
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Pkhd1 PKHD1 ciliary IPT domain containing 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 ciliary IPT domain containing 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
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
renal-hepatic-pancreatic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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:13592920
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:7240710
RGD:8554872
Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:13592920
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:8554872
RGD:13592920
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:11554173
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
RGD:13592920
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
RGD:13592920
G Tmem218 transmembrane protein 218 JBrowse link 8 39,687,280 39,702,722 RGD:13592920
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11552600
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:7240710
RGD:8554872
RGD:11537383
Senior-Loken Syndrome 6 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
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
Senior-Loken Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Cep170 centrosomal protein 170 JBrowse link 13 94,807,090 94,887,448 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 13 94,025,696 94,355,219 RGD:8554872
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 13 94,888,046 95,100,833 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:7240710
RGD:8554872
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb2 crumbs cell polarity complex component 2 JBrowse link 3 22,037,812 22,061,247 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Urogenital Diseases 4031
        urinary system disease 2022
          kidney disease 1808
            cystic kidney disease 178
              Baraitser Rodeck Garner syndrome 0
              Brachymesomelia Renal Syndrome 0
              Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 0
              Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 1
              Joubert Syndrome 2 1
              Joubert syndrome 1 17
              Joubert syndrome 4 3
              Joubert syndrome 7 2
              Meckel Syndrome, Type 12 1
              Medullary Sponge Kidney + 1
              Multicystic Dysplastic Kidney + 7
              Renal TSC2 Angiomyolipomas, Modifier of 0
              Senior-Loken syndrome + 14
              Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 0
              Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 0
              diffuse cystic renal dysplasia 1
              maturity-onset diabetes of the young type 5 3
              nephronophthisis + 41
              non-congenital cyst of kidney 0
              polycystic kidney disease + 109
              renal-hepatic-pancreatic dysplasia + 2
              ventriculomegaly - cystic kidney disease 1
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.