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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: Microcystic Renal Disease;   polycystic kidney disease, adult type
 primary_id: MESH:D007690
 alt_id: OMIA:000807
 xref: EFO:0008620;   EFO:0008621;   NCI:C75464;   OMIM:PS173900


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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen IDA RGD PMID:20798958 RGD:12879406 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		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 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261 		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:7933831 PMID:21119215 RGD:11534987, RGD:1300446, RGD:7207426 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease IMP
IAGP		 RGD PMID:21119215 PMID:7933831 RGD:7207426, RGD:1300446
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Kidney, Polycystic ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:19637234 RGD:7241572 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Atf1 activating transcription factor 1 IEP mRNA:increased expression:kidney (rat) RGD PMID:19924104 RGD:2316104 NCBI chr 7:131,361,962...131,404,677
Ensembl chr 7:131,362,450...131,404,670 		JBrowse link
G Becn1 beclin 1 IEP
ISO		 protein:increased expression:renal cortex RGD PMID:21270095 PMID:21270095 RGD:6483074, RGD:6483074 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP protein:increased expression:serum RGD PMID:12376805 RGD:7207414 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G C9 complement C9 treatment IEP RGD PMID:24494798 RGD:8661641 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cfb complement factor B treatment IEP RGD PMID:24494798 RGD:8661641 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:31922066 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Ctsb cathepsin B IEP protein:increased expression:kidney proximal tubule RGD PMID:8840269 RGD:5686402 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsh cathepsin H IEP protein:increased expression:kidney proximal tubule RGD PMID:8840269 RGD:5686402 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824 		JBrowse link
G Deup1 deuterosome assembly protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar NCBI chr 8:12,380,300...12,442,649
Ensembl chr 8:12,380,302...12,442,199 		JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:31256877 NCBI chr 1:76,880,867...76,905,148
Ensembl chr 1:76,880,867...76,905,113 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 treatment IEP RGD PMID:32685025 RGD:155791442 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP RGD PMID:17322369 RGD:10395372 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Ganab glucosidase II alpha subunit ISO DNA:mutations: : RGD PMID:27259053 RGD:11352639 NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Gnas GNAS complex locus IEP protein:increased expression:cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 IEP mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Hdac6 histone deacetylase 6 treatment IMP RGD PMID:24434010 RGD:9681551 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP RGD PMID:17322369 RGD:10395372 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Invs inversin severity ISO RGD PMID:16999740 RGD:155794378 NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Kif3a kinesin family member 3a ISS MouseDO NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191 		JBrowse link
G Lcn2 lipocalin 2 ISO mRNA:increased expression:kidney, epithelial cell RGD PMID:22258321 RGD:126790531 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		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:25920554 PMID:28492532 PMID:30283887 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:18606867 RGD:7241222 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IEP RGD PMID:22160773 RGD:7245545 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:kidney: RGD PMID:12675853 RGD:11534000 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:18371931 PMID:20007846 PMID:23559409 PMID:25741868 PMID:26673778 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nppb natriuretic peptide B treatment IDA RGD PMID:28416225 RGD:14701038 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:25741868 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting IAGP
ISO		 ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1740684 PMID:7581371 PMID:8004675 PMID:8554072 PMID:8792818 More... RGD:633540 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar
RGD		 PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 PMID:9773786 More... RGD:13524568 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		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 kidney disease, adult type		 ClinVar
RGD		 PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... RGD:1642440 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pla2g4a phospholipase A2 group IVA IEP protein:increased expression:kidney RGD PMID:12490538 RGD:1642471 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Plcg1 phospholipase C, gamma 1 TAS RGD PMID:12009430 RGD:625563 NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment IDA RGD PMID:21147840 RGD:14701037 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP protein:increased expression:kidney RGD PMID:17537981 RGD:2300262 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP protein:increased expression:kidney RGD PMID:17537981 RGD:2300262 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptma prothymosin alpha ISS MouseDO NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055 		JBrowse link
G Sod1 superoxide dismutase 1 IEP mRNA:decreased expression:kidney (rat) RGD PMID:23006058 RGD:8657020 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO RGD PMID:22025716 RGD:7243974 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
G Tnc tenascin C IEP protein:increased expression:kidney RGD PMID:15565633 RGD:4889614 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:17304050 PMID:22703879 PMID:22903760 PMID:24728327 PMID:25741868 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Tulp3 TUB like protein 3 ISS MouseDO NCBI chr 4:161,590,478...161,632,514
Ensembl chr 4:161,590,479...161,632,149 		JBrowse link
G Xylt2 xylosyltransferase 2 ISS MouseDO NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391 		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: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS MouseDO NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259 		JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377 		JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590 		JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763 		JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974 		JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		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 chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Ganab glucosidase II alpha subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease		 CTD
ClinVar		 NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:88,563,708...88,657,603
Ensembl chr 4:88,563,607...88,657,429 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698 		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 chr 4:87,952,202...88,042,492
Ensembl chr 4:87,952,274...88,042,488 		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 chr 4:87,524,470...87,566,895
Ensembl chr 4:87,524,493...87,581,744 		JBrowse link
G Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,693,304...5,743,157
Ensembl chr14:5,711,964...5,743,161 		JBrowse link
G Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,751,697...5,766,809
Ensembl chr14:5,752,132...5,768,166 		JBrowse link
G Ibsp integrin-binding sialoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,439,825...5,452,570
Ensembl chr14:5,439,829...5,452,693 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510 		JBrowse link
G Klhl8 kelch-like family member 8 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,807,795...5,853,325
Ensembl chr14:5,807,907...5,853,294 		JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO protein:increased expression:serum, urine RGD PMID:20921623 PMID:22258321 RGD:126781837, RGD:126790531 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lrp2 LDL receptor related protein 2 IEP RGD PMID:11841627 RGD:1641842 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility IAGP
ISO		 DNA:missense mutation:cds:multiple mutations (human)
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:25920554 RGD:11553546 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		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 chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25877301 PMID:18356167 RGD:7207457 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		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 chr 4:88,022,670...88,024,988
Ensembl chr 4:88,022,569...88,024,654 		JBrowse link
G Nphp3 nephrocystin 3 ISS MouseDO NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,675,376...5,693,332
Ensembl chr14:5,675,382...5,693,142 		JBrowse link
G Onecut2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chr18:57,831,647...57,881,287
Ensembl chr18:57,832,111...57,879,629 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858 		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 chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:mutations:exons, intron:multiple
DNA:mutations:multiple
DNA:missense mutation:cds:p.R3277C (mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1		 CTD
ClinVar
RGD		 PMID:7581371 PMID:8004675 PMID:9285784 PMID:9521593 PMID:10200984 More... RGD:1601399, RGD:7175279, RGD:7175280 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8650545 PMID:9326320 PMID:9536098 PMID:9573526 PMID:9773786 More... RGD:7175273, RGD:7175279 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		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 chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		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 chr 4:87,612,198...87,638,993
Ensembl chr 4:87,612,204...87,636,152 		JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:87,501,859...87,505,494
Ensembl chr 4:87,501,859...87,505,494 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,632,816...5,663,866
Ensembl chr14:5,632,569...5,663,865 		JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO		 ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar
RGD		 PMID:17582161 PMID:22863349 PMID:25741868 PMID:28492532 PMID:20926632 RGD:5131995 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		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 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
G Tigd2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:88,414,366...88,417,458
Ensembl chr 4:88,414,518...88,417,785 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Aqp1 aquaporin 1 IEP
ISO		 mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776 		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 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320 PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		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 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701 		JBrowse link
G Cftr CF transmembrane conductance regulator IEP
ISO		 mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:129,123,323...129,137,464
Ensembl chr 5:129,123,336...129,137,464 		JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:128,922,355...128,934,188
Ensembl chr 5:128,923,615...128,934,165 		JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:129,097,571...129,115,488
Ensembl chr 5:129,097,926...129,115,463 		JBrowse link
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:128,702,130...128,733,476
Ensembl chr 5:128,702,131...128,733,476 		JBrowse link
G Cys1 cystin 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200		 ClinVar
MouseDO
RGD		 PMID:25741868 PMID:34521872 PMID:11854326 RGD:7175541 NCBI chr 6:41,300,836...41,318,071
Ensembl chr 6:41,300,836...41,318,071 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:16199547 PMID:23339108 PMID:28492532 PMID:29068549 PMID:32753734 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Eln elastin IEP RGD PMID:21478483 RGD:7207865 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288 PMID:8608416 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nek1 NIMA-related kinase 1 ISS OMIM:263200 MouseDO NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Nek8 NIMA-related kinase 8 ISS OMIM:263200 MouseDO NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Panx1 Pannexin 1 IEP RGD PMID:31630543 RGD:14995937 NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774 		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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISS
ISO		 OMIM:263200
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease		 MouseDO
ClinVar		 PMID:25741868 PMID:26467025 PMID:29100090 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity		 ISO
IAGP
IEP		 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:
CTD Direct Evidence: marker/mechanism
protein:decreased expression:kidney
DNA:splice site mutation:intron:IVS35-2A>T		 ClinVar
CTD
RGD		 PMID:1189128 PMID:3239877 PMID:9536098 PMID:11898128 PMID:11919560 More... RGD:70439, RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		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 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065 		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
RGD		 PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788
G Tsc1 TSC complex subunit 1 ISS OMIM:263200 MouseDO NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		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 Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA OMIM
ClinVar		 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More... NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261 		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: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:16199547 PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | 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)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:17558407 PMID:17558409 PMID:18414213 PMID:19430481 PMID:20301500 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:9375913 PMID:17160906 PMID:17377820 PMID:17397051 PMID:18327255 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		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 OMIM
ClinVar		 PMID:25741868 PMID:26123494 PMID:26595381 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		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
DNA:missense,frameshift,nonsense mutations:cds,splice junction:		 OMIM
ClinVar
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		JBrowse link
Meckel syndrome 3 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 3 ClinVar PMID:16199547 PMID:16909394 PMID:17345604 PMID:20690115 PMID:25445212 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Tmem67 transmembrane protein 67 ISO
IAGP		 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		 OMIM
ClinVar
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:16415887 RGD:11535082
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-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
DNA:frameshift mutation:exon:c.5489del (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11070805 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		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 OMIM
ClinVar		 PMID:17558407 PMID:17558409 PMID:18414213 PMID:19430481 PMID:20301500 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		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 OMIM
ClinVar		 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
polycystic kidney disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease 1 OMIM
ClinVar		 PMID:10364515 PMID:10854095 PMID:11115377 PMID:12482949 PMID:15772804 More... NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		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 chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Polycystic kidney disease 2 OMIM
ClinVar		 PMID:8650545 PMID:9175744 PMID:9326320 PMID:9402976 PMID:9536098 More... NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		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 OMIM
ClinVar		 PMID:25741868 PMID:27259053 PMID:28492532 PMID:33097077 NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease 3 ClinVar NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease 3 ClinVar PMID:10364515 PMID:10854095 PMID:15772804 PMID:17582161 PMID:21115670 More... NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		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, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4 OMIM
ClinVar		 PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease 4 ClinVar PMID:17086182 PMID:25741868 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Polycystic kidney disease 4 ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988 		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 chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407 		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:35896117 NCBI chr 2:138,936,998...138,951,228
Ensembl chr 2:138,936,993...138,951,216 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    Developmental Disease 18380
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18236
        Congenital Abnormalities 7501
          Multiple Abnormalities 3705
            polycystic kidney disease 153
              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 8
              Meckel syndrome 13 1
              Meckel syndrome 2 1
              Meckel syndrome 3 4
              Meckel syndrome 4 3
              Meckel syndrome 5 1
              Meckel syndrome 6 3
              Meckel-Like Cerebrorenodigital Syndrome 0
              Polycystic Kidney, Cataract, and Congenital Blindness 0
              autosomal dominant polycystic kidney disease + 69
              autosomal recessive polycystic kidney disease + 43
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      Urogenital Diseases 4934
        urinary system disease 2545
          kidney disease 2304
            cystic kidney disease 304
              polycystic kidney disease 153
                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 8
                Meckel syndrome 13 1
                Meckel syndrome 2 1
                Meckel syndrome 3 4
                Meckel syndrome 4 3
                Meckel syndrome 5 1
                Meckel syndrome 6 3
                Meckel-Like Cerebrorenodigital Syndrome 0
                Polycystic Kidney, Cataract, and Congenital Blindness 0
                autosomal dominant polycystic kidney disease + 69
                autosomal recessive polycystic kidney disease + 43
paths to the root