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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:polycystic kidney disease
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Accession:DOID:0080322 term browser browse the term
Definition:A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. (DO)
Synonyms:exact_synonym: polycystic kidney;   polycystic kidney diseases;   polycystic kidneys;   polycystic renal disease;   polycystic renal diseases
 narrow_synonym: polycystic kidney disease, adult type
 primary_id: MESH:D007690
 alt_id: OMIA:000807
 xref: OMIM:PS173900
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:kidney (mouse) RGD PMID:20606421 RGD:7244164 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen IDA RGD PMID:20798958 RGD:12879406 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:31395617 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP
IMP
DNA:mutation:cds:p.R823W(rat) RGD PMID:16207829, PMID:21119215 RGD:11534987, RGD:7207426 NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
JBrowse link
G Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease IMP
IDA
RGD PMID:21119215, PMID:7933831 RGD:7207426, RGD:1300446
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:19637234 RGD:7241572 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Atf1 activating transcription factor 1 IEP mRNA:increased expression:kidney (rat) RGD PMID:19924104 RGD:2316104 NCBI chr 7:141,882,261...141,924,790
Ensembl chr 7:141,882,251...141,924,788
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:10874630, PMID:11179009, PMID:11567139, PMID:16582908, PMID:16823392, PMID:17980398, PMID:20080638, PMID:20120035, PMID:20177705, PMID:20498079, PMID:20805367, PMID:20876674, PMID:21209035, PMID:21344540, PMID:21642631, PMID:22353939, PMID:22713813, PMID:24400638, PMID:24746959, PMID:25741868, PMID:26467025, PMID:27385962, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
JBrowse link
G Becn1 beclin 1 IEP
ISO
protein:increased expression:renal cortex RGD PMID:21270095, PMID:21270095 RGD:6483074, RGD:6483074 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP protein:increased expression:serum RGD PMID:12376805 RGD:7207414 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G C9 complement C9 treatment IEP RGD PMID:24494798 RGD:8661641 NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:16909394, PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:20683928, PMID:21245082, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cfb complement factor B treatment IEP RGD PMID:24494798 RGD:8661641 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Ctsb cathepsin B IEP protein:increased expression:kidney proximal tubule RGD PMID:8840269 RGD:5686402 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Ctsh cathepsin H IEP protein:increased expression:kidney proximal tubule RGD PMID:8840269 RGD:5686402 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Deup1 deuterosome assembly protein 1 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar NCBI chr 8:14,094,742...14,157,232
Ensembl chr 8:14,094,732...14,157,141
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:10814720, PMID:10995508, PMID:11427181, PMID:20104611, PMID:22382802, PMID:22929031, PMID:23042628, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar NCBI chr 1:78,069,260...78,112,488
Ensembl chr 1:78,090,044...78,112,488
JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP RGD PMID:17322369 RGD:10395372 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Ganab glucosidase II alpha subunit ISO DNA:mutations: : RGD PMID:27259053 RGD:11352639 NCBI chr 1:225,096,558...225,116,384
Ensembl chr 1:225,096,598...225,116,378
JBrowse link
G Gnas GNAS complex locus IEP protein:increased expression:cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 IEP mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
JBrowse link
G Hdac6 histone deacetylase 6 treatment IMP RGD PMID:24434010 RGD:9681551 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP RGD PMID:17322369 RGD:10395372 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:30311386 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:30311386 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:25711638, PMID:25741868, PMID:28492532 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:25741868 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:18606867 RGD:7241222 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mtor mechanistic target of rapamycin kinase IEP RGD PMID:22160773 RGD:7245545 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:18533079, PMID:20800588, PMID:23140321, PMID:24033266, PMID:24093860, PMID:25740977, PMID:25741868, PMID:27600940, PMID:30311386 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor IEP
ISO
mRNA:increased expression:kidney (rat) RGD PMID:21119215, PMID:9422539 RGD:7207426, RGD:7207451 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:kidney: RGD PMID:12675853 RGD:11534000 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:18371931, PMID:20007846, PMID:23559409, PMID:25741868, PMID:26673778, PMID:27894351, PMID:28492532, PMID:30311386 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Nppb natriuretic peptide B treatment IDA RGD PMID:28416225 RGD:14701038 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:20122277, PMID:20412113, PMID:20582465, PMID:20589654, PMID:21165770, PMID:21285249, PMID:21365267, PMID:24061862, PMID:24136930, PMID:24415441, PMID:25099575, PMID:25186627, PMID:25330149, PMID:25452441, PMID:25741868, PMID:25959805, PMID:26083025, PMID:26270727, PMID:26467025, PMID:26720728, PMID:26845104, PMID:27038244, PMID:27099641, PMID:27106063, PMID:28158555, PMID:28279176, PMID:28492532, PMID:30311386 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:25741868 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting IAGP
ISO
ClinVar Annotator: match by term: Polycystic kidney disease, adult type
ClinVar Annotator: match by term: Polycystic kidneys
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:173900
ClinVar
CTD
PMID:7581371, PMID:8004675, PMID:8554072, PMID:8792818, PMID:8845849, PMID:9285784, PMID:9345095, PMID:9521593, PMID:9668165, PMID:10200984, PMID:10364515, PMID:10577909, PMID:10729710, PMID:10854095, PMID:10862097, PMID:10923038, PMID:10923040, PMID:10987650, PMID:11058904, PMID:11115377, PMID:11216660, PMID:11316854, PMID:11558899, PMID:11571556, PMID:11691639, PMID:11840199, PMID:11857740, PMID:11967008, PMID:12007219, PMID:12220456, PMID:12482949, PMID:12633844, PMID:12842373, PMID:15772804, PMID:16430766, PMID:17574468, PMID:17582161, PMID:17932118, PMID:18640754, PMID:18837007, PMID:19165178, PMID:19686598, PMID:20981092, PMID:21115670, PMID:21551026, PMID:21706482, PMID:21744088, PMID:21983717, PMID:22008521, PMID:22090377, PMID:22185115, PMID:22333914, PMID:22383692, PMID:22406737, PMID:22508176, PMID:22608885, PMID:22995991, PMID:23064367, PMID:23431072, PMID:23496908, PMID:23760289, PMID:23985799, PMID:24033266, PMID:24374109, PMID:24611717, PMID:24694054, PMID:25333066, PMID:25475747, PMID:25646624, PMID:25741868, PMID:25877301, PMID:25920554, PMID:26139440, PMID:26467025, PMID:26632257, PMID:26661679, PMID:26938784, PMID:27401137, PMID:27499327, PMID:27567292, PMID:27577987, PMID:27835667, PMID:27843768, PMID:27884173, PMID:27894351, PMID:28378423, PMID:28887310, PMID:29801666, PMID:29860066, PMID:30311386, PMID:30333007, PMID:30647506, PMID:11913782 RGD:633540 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:25741868, PMID:30311386, PMID:16943309 RGD:13524568 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO mRNA:decreased expression:kidney
ClinVar Annotator: match by term: Polycystic kidney disease
ClinVar Annotator: match by term: Polycystic kidneys
ClinVar PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:21274727, PMID:24162162, PMID:25124979, PMID:25741868, PMID:26695994, PMID:27225849, PMID:28375157, PMID:28492532, PMID:15067314 RGD:1642440 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Pla2g4a phospholipase A2 group IVA IEP protein:increased expression:kidney RGD PMID:12490538 RGD:1642471 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Plcg1 phospholipase C, gamma 1 TAS RGD PMID:12009430 RGD:625563 NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment IDA RGD PMID:21147840 RGD:14701037 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr 8:23,014,802...23,026,507
Ensembl chr 8:23,014,956...23,026,503
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:30311386 NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP protein:increased expression:kidney RGD PMID:17537981 RGD:2300262 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP protein:increased expression:kidney RGD PMID:17537981 RGD:2300262 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptma prothymosin alpha ISS MouseDO NCBI chr 9:93,545,396...93,549,436
Ensembl chr 9:93,545,396...93,549,436
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:30311386 NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr20:47,494,270...47,563,222
Ensembl chr20:47,494,270...47,563,222
JBrowse link
G Sod1 superoxide dismutase 1 IEP mRNA:decreased expression:kidney (rat) RGD PMID:23006058 RGD:8657020 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO RGD PMID:22025716 RGD:7243974 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tnc tenascin C IEP protein:increased expression:kidney RGD PMID:15565633 RGD:4889614 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tulp3 TUB like protein 3 ISS MouseDO NCBI chr 4:161,636,084...161,677,807
Ensembl chr 4:161,637,892...161,658,519
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Polycystic kidneys ClinVar PMID:30311386 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Xylt2 xylosyltransferase 2 ISS MouseDO NCBI chr10:82,386,003...82,399,485
Ensembl chr10:82,386,005...82,399,485
JBrowse link
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 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS MouseDO NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,839,599...13,841,132
Ensembl chr10:13,839,956...13,841,018
JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,853,107...13,874,254
Ensembl chr10:13,854,339...13,874,254
JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,812,335...13,814,514
Ensembl chr10:13,812,707...13,814,304
JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,812,335...13,835,847
Ensembl chr10:13,815,293...13,826,945
JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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 4:89,183,180...89,281,282
Ensembl chr 4:89,183,768...89,281,222
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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 1:225,096,558...225,116,384
Ensembl chr 1:225,096,598...225,116,378
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,690,678...89,778,302
Ensembl chr 4:89,693,280...89,695,928
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
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 4:89,078,670...89,169,150
Ensembl chr 4:89,078,711...89,169,146
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 4:88,606,851...88,649,424
Ensembl chr 4:88,607,518...88,649,216
JBrowse link
G Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,054,724...7,104,567
Ensembl chr14:7,073,445...7,104,566
JBrowse link
G Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,113,544...7,128,218
Ensembl chr14:7,113,544...7,128,218
JBrowse link
G Ibsp integrin-binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,801,200...6,813,987
Ensembl chr14:6,801,204...6,813,945
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
JBrowse link
G Klhl8 kelch-like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,169,517...7,215,025
Ensembl chr14:7,169,519...7,215,025
JBrowse link
G Lrp2 LDL receptor related protein 2 IEP RGD PMID:11841627 RGD:1641842 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,782,011...6,793,561
Ensembl chr14:6,782,012...6,793,558
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,839,250...13,845,001
Ensembl chr10:13,839,250...13,845,001
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:25877301, PMID:18356167 RGD:7207457 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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 4:89,149,314...89,152,511
Ensembl chr 4:89,149,317...89,151,184
JBrowse link
G Nphp3 nephrocystin 3 ISS MouseDO NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,036,809...7,054,739
Ensembl chr14:7,036,820...7,054,548
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,836,105...13,838,731
Ensembl chr10:13,836,128...13,838,765
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 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209
JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:mutations:exons, intron:multiple
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
PMID:7581371, PMID:8004675, PMID:9521593, PMID:10200984, PMID:10364515, PMID:10854095, PMID:10987650, PMID:11058904, PMID:11115377, PMID:11216660, PMID:11558899, PMID:11571556, PMID:11691639, PMID:11840199, PMID:11857740, PMID:11967008, PMID:12007219, PMID:12070253, PMID:12089381, PMID:12482949, PMID:12842373, PMID:15772804, PMID:16430766, PMID:17574468, PMID:17582161, PMID:18077784, PMID:18640754, PMID:18837007, PMID:19165178, PMID:19401297, PMID:19686598, PMID:20558538, PMID:20981092, PMID:21115670, PMID:22008521, PMID:22090377, PMID:22185115, PMID:22333914, PMID:22383692, PMID:22508176, PMID:22608885, PMID:23064367, PMID:23300259, PMID:23431072, PMID:23760289, PMID:24033266, PMID:24374109, PMID:24694054, PMID:25333066, PMID:25646624, PMID:25741868, PMID:25877301, PMID:26139440, PMID:26453610, PMID:26467025, PMID:26632257, PMID:26661679, PMID:27499327, PMID:27567292, PMID:27884173, PMID:27894351, PMID:28887310, PMID:30333007, PMID:8554072, PMID:23064367, PMID:21115670 RGD:1601399, RGD:7175280, RGD:7175279 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel onset ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8650545, PMID:9573526, PMID:9856513, PMID:9856528, PMID:10411676, PMID:10497221, PMID:10541293, PMID:10760080, PMID:11007674, PMID:11095651, PMID:11967008, PMID:11968093, PMID:12089381, PMID:12707387, PMID:12842373, PMID:14993477, PMID:15001556, PMID:15192819, PMID:15772804, PMID:15775720, PMID:16223735, PMID:16430766, PMID:16540757, PMID:17100995, PMID:17429049, PMID:17574468, PMID:17582161, PMID:18257781, PMID:18664456, PMID:18837007, PMID:19491093, PMID:19556541, PMID:20168298, PMID:20881056, PMID:20950398, PMID:21551026, PMID:22008521, PMID:22034641, PMID:22185115, PMID:22383692, PMID:22508176, PMID:22863349, PMID:22995991, PMID:23300259, PMID:23376035, PMID:24374109, PMID:24611717, PMID:24658975, PMID:24719335, PMID:24925719, PMID:25333066, PMID:25574838, PMID:25741868, PMID:25877301, PMID:26275819, PMID:26364947, PMID:26467025, PMID:26632257, PMID:26692149, PMID:27401137, PMID:27499327, PMID:27567292, PMID:27782177, PMID:27884173, PMID:27894351, PMID:28356211, PMID:28492532, PMID:28887310, PMID:29529603, PMID:30333007, PMID:30820006, PMID:30883612, PMID:22863349, PMID:21115670 RGD:7175273, RGD:7175279 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
ClinVar PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:21274727, PMID:25124979, PMID:25741868, PMID:26695994, PMID:27225849, PMID:28375157, PMID:28492532, PMID:30311386 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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 4:88,694,395...88,721,374
Ensembl chr 4:88,694,583...88,718,533
JBrowse link
G Pyurf PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,584,242...88,587,877
Ensembl chr 4:88,584,242...88,587,877
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,894,271...13,898,578
Ensembl chr10:13,893,290...13,898,855
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
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 chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,994,261...7,025,309
Ensembl chr14:6,994,190...7,025,308
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868, PMID:20926632 RGD:5131995 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
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 4:89,535,418...89,538,535
Ensembl chr 4:89,536,647...89,538,227
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,874,444...13,893,090
Ensembl chr10:13,874,456...13,892,997
JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IMP
IEP
mRNA:increased expression:kidney (rat) RGD PMID:20229187, PMID:20798958 RGD:2325220, RGD:12879406 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Aqp1 aquaporin 1 IEP
ISO
mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr 1:266,287,015...266,333,099
Ensembl chr 1:266,287,017...266,333,105
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408
JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140, PMID:17960140 RGD:7175542, RGD:7175542 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320, PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cdc25a cell division cycle 25A treatment IEP
IMP
ISO
protein:increased expression:cholangiocyte: RGD PMID:22155366, PMID:22155366, PMID:22155366, PMID:22155366 RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 NCBI chr 8:117,953,223...117,971,552
Ensembl chr 8:117,953,444...117,971,519
JBrowse link
G Cftr CF transmembrane conductance regulator IEP
ISO
mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,492,734...134,507,158
Ensembl chr 5:134,492,756...134,507,154
JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,196,910...134,207,888
Ensembl chr 5:134,196,912...134,207,863
JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,468,666...134,484,851
Ensembl chr 5:134,469,270...134,484,839
JBrowse link
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:133,978,953...134,008,255
Ensembl chr 5:133,978,954...134,008,255
JBrowse link
G Cys1 cystin 1 ISO
ISS
OMIM:263200 MouseDO PMID:11854326 RGD:7175541 NCBI chr 6:43,844,937...43,862,131
Ensembl chr 6:43,844,937...43,862,131
JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr 8:107,875,659...107,916,298
Ensembl chr 8:107,875,991...107,916,294
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eln elastin IEP RGD PMID:21478483 RGD:7207865 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nek1 NIMA-related kinase 1 ISS OMIM:263200 MouseDO NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nek8 NIMA-related kinase 8 ISS OMIM:263200 MouseDO NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Panx1 Pannexin 1 IEP RGD PMID:31630543 RGD:14995937 NCBI chr 8:13,567,185...13,606,040
Ensembl chr 8:13,566,739...13,606,040
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha IEP protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200
ClinVar
MouseDO
PMID:10729710, PMID:11115377, PMID:11967008, PMID:17574468, PMID:17582161, PMID:19515475, PMID:21551026, PMID:22031115, PMID:22508176, PMID:24374109, PMID:25333066, PMID:25741868, PMID:26453610, PMID:26467025, PMID:26632257, PMID:29100090 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:12707387, PMID:25741868, PMID:28492532, PMID:29529603, PMID:30333007 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity
ISO
IEP
IAGP
DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
DNA:missense mutations:cds:
DNA:deletion:exon:
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
ClinVar Annotator: match by OMIM:263200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
protein:decreased expression:kidney
DNA:splice site mutation:intron:IVS35-2A>T
ClinVar
CTD
PMID:1189128, PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:12925574, PMID:14741187, PMID:14971004, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15698423, PMID:15706593, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:16632497, PMID:16876319, PMID:18414213, PMID:18503009, PMID:18988797, PMID:19021639, PMID:19176689, PMID:19524688, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:20460933, PMID:20575693, PMID:21046169, PMID:21228398, PMID:21274727, PMID:21493627, PMID:21685914, PMID:21790888, PMID:21896375, PMID:21945273, PMID:22034641, PMID:22995991, PMID:23041322, PMID:23265383, PMID:23389334, PMID:23582048, PMID:23757202, PMID:24033266, PMID:24121792, PMID:24162162, PMID:24336431, PMID:24710345, PMID:24984783, PMID:25114813, PMID:25124979, PMID:25153916, PMID:25193386, PMID:25326637, PMID:25525159, PMID:25646624, PMID:25701400, PMID:25741868, PMID:25771912, PMID:25966130, PMID:26139440, PMID:26385851, PMID:26489027, PMID:26489029, PMID:26633542, PMID:26673778, PMID:26695994, PMID:26721323, PMID:27151922, PMID:27225849, PMID:27491411, PMID:27577217, PMID:27595491, PMID:27752906, PMID:27894351, PMID:28170084, PMID:28375157, PMID:28492532, PMID:28518170, PMID:28555180, PMID:28578020, PMID:28851938, PMID:28862642, PMID:29520754, PMID:29643536, PMID:29801666, PMID:29956005, PMID:30311386, PMID:30507656, PMID:30510609, PMID:30566001, PMID:30650191, PMID:31395954, PMID:32576985, PMID:11919560, PMID:12874454, PMID:17519956, PMID:14983006, PMID:11919560 RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease IAGP RGD PMID:11919560 RGD:70439
G Sclt1 sodium channel and clathrin linker 1 ISS OMIM:263200 MouseDO NCBI chr 2:128,523,376...128,675,668
Ensembl chr 2:128,523,636...128,675,408
JBrowse link
G Slc4a2 solute carrier family 4 member 2 IEP
ISO
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
G Tsc1 TSC complex subunit 1 ISS OMIM:263200 MouseDO NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome ClinVar
OMIM
PMID:25741868, PMID:25966638 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Gruber syndrome
ClinVar PMID:18950740, PMID:19777577, PMID:22241855, PMID:22425360, PMID:23012439, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26477546, PMID:26485645, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Meckel syndrome type 1
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)
ClinVar Annotator: match by OMIM:249000
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:17935508, PMID:18327255, PMID:19430481, PMID:21068128, PMID:21258341, PMID:23351400, PMID:23736532, PMID:24033266, PMID:25741868, PMID:25966130, PMID:26092869, PMID:26490104, PMID:27377014, PMID:28224992, PMID:28492532, PMID:28497568, PMID:30718709, PMID:23351400, PMID:17935508, PMID:19776033, PMID:21045211, PMID:17397051 RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome type 1 ClinVar PMID:25741868, PMID:27571260 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Meckel syndrome type 1
ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:24033266, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28431631, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL SYNDROME 13 ClinVar
OMIM
PMID:26123494, PMID:26595381 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel syndrome, type 2
ClinVar Annotator: match by term: Meckel syndrome type 2
ClinVar Annotator: match by OMIM:603194
DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM
ClinVar
PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26673778, PMID:28492532, PMID:28497568, PMID:20512146 RGD:11067331 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
IAGP
ClinVar Annotator: match by term: Meckel syndrome, type 3
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3
ClinVar Annotator: match by term: Meckel syndrome type 3
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple
ClinVar Annotator: match by OMIM:607361
OMIM
ClinVar
PMID:2929661, PMID:9375913, PMID:10508989, PMID:16415887, PMID:16541367, PMID:17160906, PMID:17185389, PMID:17377820, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:22121117, PMID:23351400, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27491411, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386, PMID:19211713, PMID:16415887, PMID:16415887, PMID:26191240, PMID:23351400, PMID:17377820, PMID:17397051 RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Meckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4
ClinVar Annotator: match by term: Meckel syndrome type 4
ClinVar Annotator: match by OMIM:611134
DNA:frameshift mutation:exon:c.5489del (human)
OMIM
ClinVar
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26667666, PMID:27353947, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:17705300 RGD:11070805 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Meckel syndrome, type 5
ClinVar Annotator: match by term: Meckel syndrome type 5
ClinVar Annotator: match by OMIM:611561
OMIM
ClinVar
PMID:17558409, PMID:18414213, PMID:19430481, PMID:21068128, PMID:23188109, PMID:24033266, PMID:25741868, PMID:27434533, PMID:28492532, PMID:29343940, PMID:29991045, PMID:30311386 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar Annotator: match by OMIM:612284
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18414213, PMID:18513680, PMID:18950740, PMID:19466712, PMID:19777577, PMID:21068128, PMID:21370303, PMID:22241855, PMID:22995991, PMID:24360807, PMID:24706459, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27081510, PMID:27082236, PMID:27894351, PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
Medullary Cystic Kidney Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Muc1 mucin 1, cell surface associated ISO DNA:mutation::
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:174000
CTD
ClinVar
OMIM
PMID:15384011, PMID:23396133, PMID:23396133 RGD:7244289 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
Medullary Cystic Kidney Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant
ClinVar Annotator: match by OMIM:603860
ClinVar
OMIM
PMID:12471200, PMID:15983957, PMID:25741868, PMID:12471200 RGD:737832 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
polycystic kidney disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif3a kinesin family member 3a ISS OMIM:173900 MouseDO NCBI chr10:38,918,705...38,953,958
Ensembl chr10:38,918,748...38,952,785
JBrowse link
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 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease 1
ClinVar Annotator: match by term: POTTER TYPE III POLYCYSTIC KIDNEY DISEASE
OMIM
ClinVar
PMID:11115377, PMID:12482949, PMID:12842373, PMID:16430766, PMID:17574468, PMID:17582161, PMID:22333914, PMID:22508176, PMID:23064367, PMID:23431072, PMID:23760289, PMID:24694054, PMID:25333066, PMID:25741868, PMID:26467025, PMID:26632257, PMID:27499327, PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISS OMIM:173900 MouseDO NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
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:9573526, PMID:9856513, PMID:9856528, PMID:9949210, PMID:10411676, PMID:10497221, PMID:10541293, PMID:11007674, PMID:11095651, PMID:11967008, PMID:11968093, PMID:12707387, PMID:12842373, PMID:14993477, PMID:15192819, PMID:15772804, PMID:15775720, PMID:16223735, PMID:16430766, PMID:16540757, PMID:17100995, PMID:17429049, PMID:17574468, PMID:17582161, PMID:18257781, PMID:18664456, PMID:18837007, PMID:19158373, PMID:19491093, PMID:19556541, PMID:20168298, PMID:20881056, PMID:20950398, PMID:21551026, PMID:21719175, PMID:22008521, PMID:22034641, PMID:22185115, PMID:22383692, PMID:22508176, PMID:22863349, PMID:22995991, PMID:23300259, PMID:23376035, PMID:24374109, PMID:24611717, PMID:24658975, PMID:24925719, PMID:25333066, PMID:25491204, PMID:25574838, PMID:25741868, PMID:26275819, PMID:26364947, PMID:26467025, PMID:26632257, PMID:26692149, PMID:27401137, PMID:27499327, PMID:27567292, PMID:27884173, PMID:27894351, PMID:28356211, PMID:28492532, PMID:29529603, PMID:30311386, PMID:30333007, PMID:30820006 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
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 ClinVar
OMIM
PMID:25741868, PMID:27259053 NCBI chr 1:225,096,558...225,116,384
Ensembl chr 1:225,096,598...225,116,378
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease 3
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III
ClinVar PMID:10364515, PMID:10854095, PMID:15772804, PMID:17582161, PMID:21115670, PMID:22090377, PMID:22383692, PMID:22508176, PMID:23431072, PMID:24374109, PMID:25333066, PMID:25646624, PMID:25741868, PMID:26139440, PMID:26467025, PMID:26632257, PMID:26661679, PMID:27499327, PMID:30333007 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: PKD3 ClinVar PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:21274727, PMID:25124979, PMID:25741868, PMID:26695994, PMID:27225849, PMID:28375157, PMID:28492532, PMID:30311386 NCBI chr 9:26,164,969...26,736,704 JBrowse link
polycystic kidney disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE OMIM
ClinVar
PMID:1189128, PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:21274727, PMID:25124979, PMID:25741868, PMID:26695994, PMID:27151922, PMID:27225849, PMID:27894351, PMID:28375157, PMID:28492532, PMID:30311386 NCBI chr 9:26,164,969...26,736,704 JBrowse link
polycystic kidney disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1l DAZ interacting zinc finger protein 1-like ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 5 ClinVar
OMIM
PMID:28530676 NCBI chr 8:107,875,659...107,916,298
Ensembl chr 8:107,875,991...107,916,294
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 chr11:81,741,342...81,757,806
Ensembl chr11:81,741,297...81,757,813
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Multiple Abnormalities 1738
            polycystic kidney disease 146
              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 2
              Meckel syndrome 5 1
              Meckel syndrome 6 1
              Meckel-Like Cerebrorenodigital Syndrome 0
              Polycystic Kidney, Cataract, and Congenital Blindness 0
              autosomal dominant polycystic kidney disease + 66
              autosomal recessive polycystic kidney disease + 40
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        urinary system disease 2069
          kidney disease 1857
            cystic kidney disease 220
              polycystic kidney disease 146
                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 2
                Meckel syndrome 5 1
                Meckel syndrome 6 1
                Meckel-Like Cerebrorenodigital Syndrome 0
                Polycystic Kidney, Cataract, and Congenital Blindness 0
                autosomal dominant polycystic kidney disease + 66
                autosomal recessive polycystic kidney disease + 40
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.