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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
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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: EFO:1001496;   GARD:7419;   ICD10CM:Q61.3;   ICD9CM:753.12;   NCI:C84578;   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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chrNW_004936524:7,320,069...7,379,417
Ensembl chrNW_004936524:7,320,497...7,357,350 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISO MouseDO NCBI chrNW_004936614:4,211,090...4,484,862
Ensembl chrNW_004936614:4,211,083...4,484,868 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chrNW_004936596:5,176,682...5,246,102
Ensembl chrNW_004936596:5,177,147...5,246,518 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936694:1,836,566...1,838,950
Ensembl chrNW_004936694:1,837,357...1,838,819 		JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004936518:2,947,956...2,994,892
Ensembl chrNW_004936518:2,958,995...2,994,880 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936694:1,856,529...1,868,107
Ensembl chrNW_004936694:1,856,603...1,866,617 		JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182 		JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215 		JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chrNW_004936528:6,428,824...6,477,007
Ensembl chrNW_004936528:6,429,973...6,477,218 		JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936694:1,808,184...1,810,735
Ensembl chrNW_004936694:1,808,463...1,810,019 		JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936905:458,062...463,359
Ensembl chrNW_004936905:458,298...463,346 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936694:1,811,131...1,829,193
Ensembl chrNW_004936694:1,809,882...1,829,157 		JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Fam13a family with sequence similarity 13 member A ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:1,174,072...1,358,441
Ensembl chrNW_004936685:1,171,584...1,501,074 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chrNW_004936581:613,292...633,075
Ensembl chrNW_004936581:613,253...634,130 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chrNW_004936569:792,393...794,764
Ensembl chrNW_004936569:793,426...794,421 		JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:1,649,740...1,712,958
Ensembl chrNW_004936685:1,656,084...1,658,384 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chrNW_004936515:6,030,402...6,051,161 JBrowse link
G Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:1,041,176...1,163,290
Ensembl chrNW_004936685:1,054,302...1,163,704 		JBrowse link
G Herc5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:917,019...966,814 JBrowse link
G Herc6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:863,198...916,774
Ensembl chrNW_004936685:863,212...911,202 		JBrowse link
G Hsd17b13 hydroxysteroid 17-beta dehydrogenase 13 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936896:657,443...709,735
Ensembl chrNW_004936896:698,254...709,550 		JBrowse link
G Ibsp integrin binding sialoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936905:316,459...323,446
Ensembl chrNW_004936905:316,459...323,446 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chrNW_004936574:5,985,181...6,155,067
Ensembl chrNW_004936574:5,984,939...6,155,164 		JBrowse link
G Klhl8 kelch like family member 8 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936920:4,418...22,583
Ensembl chrNW_004936920:4,186...25,059 		JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO protein:increased expression:serum, urine RGD PMID:20921623 PMID:22258321 RGD:126781837 RGD:126790531 NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:missense mutation:cds:multiple mutations (human)
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease		 RGD
ClinVar		 PMID:25741868 PMID:25920554 PMID:28492532 RGD:11553546 NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936587:5,065,200...5,143,029
Ensembl chrNW_004936587:4,978,043...5,140,191 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936905:284,849...297,297 JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936694:1,839,135...1,849,307
Ensembl chrNW_004936694:1,834,701...1,842,719 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney (mouse)		 CTD
RGD		 PMID:18356167 PMID:25877301 RGD:7207457 NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965 		JBrowse link
G Nap1l5 nucleosome assembly protein 1 like 5 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:1,142,051...1,143,536
Ensembl chrNW_004936685:1,142,826...1,143,401 		JBrowse link
G Nphp3 nephrocystin 3 ISO MouseDO NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447 		JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936905:586,160...616,490
Ensembl chrNW_004936905:584,558...616,508 		JBrowse link
G Onecut2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chrNW_004936497:6,853,739...6,896,408
Ensembl chrNW_004936497:6,854,238...6,895,660 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936694:1,834,016...1,836,359 JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis class Y ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:984,606...985,106 JBrowse link
G Pitx2 paired like homeodomain 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:missense mutation:cds:p.R3277C (mouse)
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1		 RGD
ClinVar		 PMID:9199561 PMID:9285784 PMID:9521593 PMID:10200984 PMID:10364515 More... RGD:7175280 NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		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: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1		 RGD
ClinVar		 PMID:8650545 PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 More... RGD:7175273 NCBI chrNW_004936905:76,781...128,995 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 ClinVar PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743 		JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:742,081...765,728
Ensembl chrNW_004936685:742,075...766,307 		JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:985,007...987,646
Ensembl chrNW_004936685:982,499...988,368 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936694:1,896,360...1,902,272
Ensembl chrNW_004936694:1,893,076...1,902,605 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chrNW_004936490:3,441,046...3,492,917
Ensembl chrNW_004936490:3,441,055...3,492,917 		JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004936581:4,911,403...4,924,484
Ensembl chrNW_004936581:4,908,458...4,924,645 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 disease_progression ISO mRNA, protein:altered expression:renal cortex (rat) RGD PMID:11004225 RGD:7242933 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:2,077,017...2,175,298
Ensembl chrNW_004936685:2,076,651...2,175,338 		JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936905:535,589...574,719
Ensembl chrNW_004936905:535,355...574,734 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:17582161 PMID:22863349 PMID:25741868 PMID:28492532 NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chrNW_004936646:1,297,530...1,312,508
Ensembl chrNW_004936646:1,296,290...1,312,157 		JBrowse link
G Tigd2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936685:1,501,297...1,505,953
Ensembl chrNW_004936685:1,501,336...1,505,953 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936694:1,868,309...1,886,772 JBrowse link
polycystic kidney disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease 1 ClinVar PMID:25711638 PMID:25741868 PMID:25920554 PMID:28492532 PMID:30283887 NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse)
mRNA:increased expression:renal cortex (human)		 RGD PMID:16449663 PMID:19346236 RGD:7207447 RGD:7207779 NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: PKD1-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 1 OMIM
ClinVar		 PMID:10364515 PMID:11012875 PMID:11115377 PMID:11967008 PMID:12007219 More... NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		JBrowse link
polycystic kidney disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam13a family with sequence similarity 13 member A ISO ClinVar Annotator: match by term: Polycystic kidney disease 2 ClinVar PMID:25741868 NCBI chrNW_004936685:1,174,072...1,358,441
Ensembl chrNW_004936685:1,171,584...1,501,074 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: PKD2-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 2 OMIM
ClinVar		 PMID:8650545 PMID:9175744 PMID:9326320 PMID:9402976 PMID:9536098 More... NCBI chrNW_004936905:76,781...128,995 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 WITH POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease OMIM
ClinVar		 PMID:25741868 PMID:27259053 PMID:28492532 PMID:33097077 PMID:33437033 NCBI chrNW_004936581:613,292...633,075
Ensembl chrNW_004936581:613,253...634,130 		JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease ClinVar NCBI chrNW_004936581:607,253...613,080
Ensembl chrNW_004936581:607,079...613,161 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease ClinVar PMID:10364515 PMID:10854095 PMID:15772804 PMID:17582161 PMID:21115670 More... NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: PKD3 | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease ClinVar PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 More... NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863 		JBrowse link
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: PKD3 ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chrNW_004936486:1,723,253...1,809,416 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 OMIM
ClinVar		 PMID:25741868 PMID:29706351 PMID:32631624 NCBI chrNW_004936578:3,360,259...3,374,634
Ensembl chrNW_004936578:3,360,259...3,374,612 		JBrowse link
Polycystic Kidney Disease 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg5 ALG5 dolichyl-phosphate beta-glucosyltransferase ISO ClinVar Annotator: match by term: Polycystic kidney disease 7 OMIM
ClinVar		 PMID:25741909 PMID:35896117 NCBI chrNW_004936472:31,071,746...31,112,600
Ensembl chrNW_004936472:31,071,832...31,111,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7058
          Multiple Abnormalities 3450
            polycystic kidney disease 136
              autosomal dominant polycystic kidney disease 67
                Polycystic Kidney Disease 6 with or without Polycystic Liver Disease 1
                Polycystic Kidney Disease 7 1
                polycystic kidney disease 1 3
                polycystic kidney disease 2 2
                polycystic kidney disease 3 5
Path 2
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  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9605
            autosomal genetic disease 8889
              autosomal dominant disease 5828
                autosomal dominant polycystic kidney disease 67
                  Polycystic Kidney Disease 6 with or without Polycystic Liver Disease 1
                  Polycystic Kidney Disease 7 1
                  polycystic kidney disease 1 3
                  polycystic kidney disease 2 2
                  polycystic kidney disease 3 5
paths to the root