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


show annotations for term's descendants           Sort by:
 
cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793029 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO RGD PMID:27153923 RGD:11553938 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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 Cep290 centrosomal protein 290 ISS MouseDO NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:25741868 NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
JBrowse link
G Dnm2 dynamin 2 ISS MouseDO NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Ephb4 EPH receptor B4 ISS MouseDO NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18604206 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9879822 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Lama5 laminin subunit alpha 5 ISS MouseDO NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Nphp3 nephrocystin 3 ISO DNA:missense mutation: :p.I614S (mouse) RGD PMID:18371931 RGD:11352488 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal cyst ClinVar NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:11115377 PMID:11967008 PMID:19515475 PMID:22508176 PMID:25741868 More... NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:25741868 PMID:27225849 PMID:28492532 NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Robo1 roundabout guidance receptor 1 ISS MouseDO NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835237 NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Tmem67 transmembrane protein 67 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CYSTIC KIDNEYS
CTD
ClinVar
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISS MouseDO NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: CYSTIC KIDNEYS ClinVar PMID:25741868 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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 4:87,676,241...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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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 JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,528,441...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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant
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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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 DNA:missense mutation:cds:multiple mutations (human) RGD 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 Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,675,376...5,693,332
Ensembl chr14:5,675,382...5,693,142
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease
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 More... RGD:1601399, RGD:7175280, RGD:7175279 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: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8650545 PMID:9536098 PMID:9573526 PMID:9949210 PMID:10411676 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: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More... NCBI chr 9:22,547,396...23,037,443 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 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: Polycystic kidney disease, autosomal dominant 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: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 1 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 term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: UMOD-Associated Kidney Disease
ClinVar Annotator: match by term: Familial juvenile gout
ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
ClinVar Annotator: match by OMIM:162000
ClinVar
OMIM
PMID:7396593 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 More... RGD:737832 NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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 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 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
OMIM:263200 MouseDO 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:29068549 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 ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200
ClinVar
MouseDO
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:
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:9536098 PMID:11898128 PMID:11919560 PMID:12506140 More... RGD:70439, RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 9:22,547,396...23,037,443 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 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
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Tbx18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Multicystic renal dysplasia, bilateral
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2
ClinVar
OMIM
PMID:25741868 PMID:25741890 PMID:26235987 NCBI chr 8:88,652,054...88,680,081
Ensembl chr 8:88,652,054...88,680,058
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
diffuse cystic renal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicc1 BicC family RNA binding protein 1 susceptibility ISO ClinVar Annotator: match by term: Renal dysplasia diffuse cystic
ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to
ClinVar
OMIM
PMID:21922595 PMID:25741868 NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776
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: Gillessen-Kaesbach-Nishimura syndrome
ClinVar
OMIM
PMID:25741868 PMID:25966638 PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:15322546 PMID:15467982 PMID:16453322 PMID:25616960 PMID:25741868 More... NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24886560 PMID:26092869 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:18950740 PMID:19777577 PMID:21068128 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: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:26092869 NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by OMIM:213300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15786477 PMID:18414213 PMID:19668216 PMID:23386033 PMID:25133751 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr12:14,899,151...14,927,949
Ensembl chr12:14,899,157...14,927,946
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:17185389 PMID:17397051 PMID:19466712 PMID:23351400 PMID:24886560 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:17558409 PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 More... NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
Joubert 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: Joubert syndrome 2
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2
ClinVar Annotator: match by OMIM:608091
DNA:misense mutation:exon:c.35G>T(p.R12L)(human)
OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11561919 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
JBrowse link
Joubert syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) RGD PMID:17409309 RGD:7246903 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 4
associated with Kidney Diseases, Cystic;DNA:mutation
OMIM
ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... RGD:7246903 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
Joubert syndrome 7 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: Joubert syndrome 7 ClinVar PMID:19936001 PMID:25741868 PMID:28492532 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome 7
DNA:missense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by OMIM:611560
OMIM
ClinVar
PMID:16199547 PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 More... RGD:11537350 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
maturity-onset diabetes of the young type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:25741868 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney
ClinVar Annotator: match by OMIM:137920
OMIM
ClinVar
PMID:2624270 PMID:7151342 PMID:9398836 PMID:9703339 PMID:10484768 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 More... NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:27657687 NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
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 PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 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 PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564974 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Meckel syndrome type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica
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:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 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:17558409 PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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 SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 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 ClinVar
OMIM
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
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: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 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:16415887 PMID:16541367 PMID:17160906 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 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: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 RGD1307947 similar to RIKEN cDNA C430008C19 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 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
ClinVar Annotator: match by term: Meckel syndrome type 5
ClinVar Annotator: match by OMIM:611561
OMIM
ClinVar
PMID:17558409 PMID:18414213 PMID:19430481 PMID:20301500 PMID:21068128 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
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar Annotator: match by OMIM:612284
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:21462283 PMID:23169490 PMID:26729329 NCBI chr12:31,982,440...32,007,242 JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel syndrome type 7 OMIM
ClinVar
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
Meckel Syndrome, Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Meckel syndrome 12 ClinVar
OMIM
PMID:24128419 PMID:25741868 NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
JBrowse link
Medullary Sponge Kidney 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 RGD PMID:30600684 RGD:14700919 NCBI chr 9:22,547,396...23,037,443 JBrowse link
Multicystic Dysplastic Kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Multicystic kidney dysplasia ClinVar PMID:25741868 PMID:30143558 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA, protein:increased expression:kidney RGD PMID:9200407 RGD:2298582 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
JBrowse link
nephronophthisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad11 acyl-CoA dehydrogenase family, member 11 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
JBrowse link
G Ahi1 Abelson helper integration site 1 ISS
ISO
ClinVar Annotator: match by term: Nephronophthisis MouseDO
ClinVar
PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Ajap1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 5:163,907,846...164,021,004
Ensembl chr 5:163,907,847...164,020,317
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:16199547 PMID:16682970 PMID:16909394 PMID:17345604 PMID:17409309 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cntrl centriolin ISS MouseDO NCBI chr 3:18,428,147...18,500,362
Ensembl chr 3:18,428,103...18,500,380
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:22425360 PMID:25741868 PMID:26092869 PMID:28087721 PMID:28125082 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
JBrowse link
G Fam186b family with sequence similarity 186, member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 7:130,408,830...130,424,261
Ensembl chr 7:130,408,830...130,424,261
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:23559409 PMID:25741868 PMID:28492532 NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:9536098 PMID:17576681 PMID:22503633 PMID:25741868 PMID:28288023 More... NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 6:25,081,933...25,121,271 JBrowse link
G Incenp inner centromere protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 1:206,520,655...206,550,575
Ensembl chr 1:206,523,380...206,553,265
JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:27158779 NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:9536098 PMID:12872123 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
JBrowse link
G Iqcb1 IQ motif containing B1 ISO DNA:deletion, nonsense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by term: Nephronophthisis
ClinVar PMID:9536098 PMID:15723066 PMID:17576681 PMID:18076122 PMID:19430481 More... RGD:11537341 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:8852662 PMID:10620543 PMID:10839884 PMID:15138899 PMID:24746959 More... NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Nephronophthisis
DNA:deletions, nonsense mutations:cds:multiple
ClinVar PMID:8852662 PMID:9326933 PMID:9536098 PMID:10620543 PMID:10839884 More... RGD:11065524 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Nephronophthisis
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... RGD:11065524 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Nephronophthisis
DNA:deletion, missense mutations, splice-site mutation:cds, intron:multiple
ClinVar PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... RGD:11065524 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
G Pias1 protein inhibitor of activated STAT, 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406
JBrowse link
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 More... NCBI chr 1:40,859,829...40,894,390
Ensembl chr 1:40,859,829...40,894,314
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis 8
associated with Joubert Syndrome 7;DNA:mutations:exons:
ClinVar PMID:18414213 PMID:19430481 PMID:20301500 PMID:23188109 PMID:25741868 More... RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:26026792 NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:17160906 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:21258341 PMID:25741868 PMID:28492532 NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISS MouseDO NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
JBrowse link
nephronophthisis 1 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: juvenile nephronophthisis ClinVar PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564974 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:22425360 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Nephronophthisis 1 ClinVar PMID:10839884 PMID:10980528 NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
JBrowse link
G Mtln mitoregulin ISO ClinVar Annotator: match by term: Nephronophthisis 1 ClinVar PMID:10839884 PMID:10980528 NCBI chr 3:115,018,810...115,019,668 JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Nephronophthisis 1
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:256100
DNA:missense mutations:cds:p.R586X (human)
DNA:deletion: :
OMIM
ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... RGD:11537341, RGD:7246904, RGD:7246902, RGD:7246900 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:12205563 PMID:15776426 PMID:21068128 PMID:21866095 PMID:23559409 More... NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:21258341 PMID:25741868 PMID:28492532 NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
nephronophthisis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nephronophthisis 11
DNA:missense mutations: :p.C615R (c.1843T>C), p.Q747E (c.2239C>G) (human)
DNA:missense mutations: :multiple
ClinVar Annotator: match by OMIM:613550
OMIM
ClinVar
PMID:17160906 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19466712 More... RGD:11535942, RGD:11535941 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
nephronophthisis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis 12
ClinVar Annotator: match by OMIM:613820
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20301500 PMID:21258341 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
nephronophthisis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Nephronophthisis 13
DNA:missense mutations, snps, insertion:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.V345G, p.Y1023X (human)
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 More... RGD:11553845, RGD:11552603 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
nephronophthisis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Nephronophthisis 14
ClinVar Annotator: match by OMIM:614844
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22863007 PMID:25741868 PMID:26539891 More... NCBI chr19:19,111,538...19,407,371
Ensembl chr19:19,110,238...19,407,373
JBrowse link
nephronophthisis 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Nephronophthisis 15
ClinVar Annotator: match by OMIM:614845
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22863007 PMID:24033266 PMID:25741868 More... NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
JBrowse link
nephronophthisis 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Nephronophthisis 16
ClinVar Annotator: match by OMIM:615382
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23793029 PMID:24610927 PMID:25741868 More... NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
JBrowse link
nephronophthisis 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Nephronophthisis 18
ClinVar Annotator: match by OMIM:615862
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23530209 PMID:24882706 PMID:25741868 More... NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574
JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Nephronophthisis 18 ClinVar PMID:28492532 NCBI chr 7:29,390,038...29,543,985
Ensembl chr 7:29,390,048...29,543,779
JBrowse link
nephronophthisis 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis 19 OMIM
ClinVar
PMID:25557784 PMID:25741868 PMID:27469900 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
JBrowse link
nephronophthisis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Infantile nephronophthisis ClinVar PMID:25741868 NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761
JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Infantile nephronophthisis
ClinVar Annotator: match by OMIM:602088
OMIM
ClinVar
PMID:2702088 PMID:12872123 PMID:17855640 PMID:18076122 PMID:19177160 More... NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Infantile nephronophthisis ClinVar PMID:18414213 PMID:20301500 PMID:21258341 PMID:24876116 PMID:25741868 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
nephronophthisis 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkbp1 mitogen activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis 20 ClinVar
OMIM
PMID:25741868 PMID:28089251 NCBI chr 3:106,947,342...106,998,368
Ensembl chr 3:106,947,827...106,996,199
JBrowse link
nephronophthisis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Nephronophthisis 3
ClinVar Annotator: match by term: Adolescent nephronophthisis
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:604387
OMIM
ClinVar
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... RGD:11071511 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
nephronophthisis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Nephronophthisis 4
DNA:missense mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:nonsense mutation: :3272del (human)
DNA:nonsense mutations, duplications:exon:multiple
ClinVar Annotator: match by OMIM:606966
OMIM
ClinVar
PMID:1248184 PMID:9536098 PMID:12205563 PMID:12244321 PMID:15776426 More... RGD:11537355, RGD:11537342, RGD:11537341 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
nephronophthisis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Nephronophthisis 7
ClinVar Annotator: match by OMIM:611498
OMIM
ClinVar
PMID:17618285 PMID:23559409 PMID:25741868 PMID:28492532 NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
JBrowse link
nephronophthisis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISO
IAGP
ClinVar Annotator: match by term: Nephronophthisis 9
compared to control Lewis
ClinVar Annotator: match by OMIM:613824
OMIM
ClinVar
PMID:16199547 PMID:18199800 PMID:23026745 PMID:23418306 PMID:25741868 More... RGD:40924667 NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
JBrowse link
G Nek8lpkArc NIMA-related kinase 8; lpk mutant, Arc IAGP compared to control Lewis RGD PMID:22899815 RGD:40924667
nephronophthisis-like nephropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1
ClinVar Annotator: match by OMIM:613159
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20179356 PMID:28492532 PMID:32660933 NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
JBrowse link
Nephronophthisis-like Nephropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc41a1 solute carrier family 41 member 1 ISO ClinVar Annotator: match by term: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 OMIM
ClinVar
PMID:23661805 NCBI chr13:43,270,792...43,291,162
Ensembl chr13:43,270,792...43,291,162
JBrowse link
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: Polycystic kidney disease 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 Cfb complement factor B treatment IEP RGD PMID:24494798 RGD:8661641 NCBI chr20:3,970,643...3,976,510 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 kidneys 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 kidneys ClinVar PMID:31256877 NCBI chr 1:76,880,867...76,905,148
Ensembl chr 1:76,880,867...76,905,113
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 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 kidneys 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:16199547 PMID:18371931 PMID:20007846 PMID:23559409 PMID:25741868 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 kidneys 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, 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 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 kidneys
ClinVar Annotator: match by term: Polycystic kidney disease
ClinVar Annotator: match by term: Polycystic kidney disease, adult type
ClinVar PMID:9402976 PMID:9536098 PMID:9573526 PMID:9949210 PMID:10411676 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 Annotator: match by term: Polycystic kidneys
ClinVar PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... RGD:1642440 NCBI chr 9:22,547,396...23,037,443 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 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 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
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:11115377 PMID:12482949 PMID:16430766 PMID:17574468 PMID:17582161 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 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:9536098 PMID:9573526 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 NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695
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 4
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
ClinVar Annotator: match by term: Abnormality of the intrahepatic bile duct
OMIM
ClinVar
PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 More... NCBI chr 9:22,547,396...23,037,443 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 Annotator: match by term: Polycystic kidney disease 5
ClinVar
OMIM
PMID:25741868 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 ClinVar
OMIM
PMID:25741868 PMID:29706351 NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
JBrowse link
renal-hepatic-pancreatic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISS OMIM:208540 | OMIM:615415 MouseDO NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
JBrowse link
G Nphp3 nephrocystin 3 ISS OMIM:208540 | OMIM:615415 MouseDO NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 OMIM
ClinVar
PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 OMIM
ClinVar
PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 More... NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
JBrowse link
Senior-Loken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Cep290 centrosomal protein 290 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:25741868 PMID:28492532 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Iqcb1 IQ motif containing B1 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar Annotator: match by term: Senior Loken syndrome
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:15723066 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 More... NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Nphp1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp4 nephrocystin 4 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:28492532 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
JBrowse link
G Tmem218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Senior Loken syndrome
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar PMID:18414213 PMID:20301500 PMID:21258341 PMID:24876116 PMID:25741868 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 1 OMIM
ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 4
ClinVar Annotator: match by OMIM:606996
OMIM
ClinVar
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
Senior-Loken Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 5
DNA:frameshift mutations, nonsense mutations:exon:multiple
ClinVar Annotator: match by OMIM:609254
OMIM
ClinVar
PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... RGD:11537383 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
Senior-Loken Syndrome 6 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: Senior-Loken syndrome 6
ClinVar Annotator: match by OMIM:610189
OMIM
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 RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:22190896 PMID:25640679 PMID:28492532 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar Annotator: match by OMIM:613615
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More... NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
JBrowse link
Senior-Loken Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 8
ClinVar Annotator: match by term: Senior-loken syndrome 8
OMIM
ClinVar
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027800 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
Senior-Loken Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 9
ClinVar Annotator: match by term: Senior-loken syndrome 9
OMIM
ClinVar
PMID:25741868 PMID:26487268 PMID:28492532 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
JBrowse link
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Ventriculomegaly with cystic kidney disease ClinVar
OMIM
PMID:25557779 PMID:25557780 PMID:25741868 PMID:26925547 PMID:27004616 More... NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        urinary system disease 2143
          kidney disease 1923
            cystic kidney disease 225
              Autosomal Dominant Tubulointerstitial Kidney Disease 1 1
              Baraitser Rodeck Garner syndrome 0
              Brachymesomelia Renal Syndrome 0
              Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 0
              Joubert Syndrome 2 1
              Joubert syndrome 1 17
              Joubert syndrome 4 3
              Joubert syndrome 7 3
              Meckel Syndrome, Type 12 1
              Medullary Sponge Kidney + 1
              Multicystic Dysplastic Kidney + 6
              Renal TSC2 Angiomyolipomas, Modifier of 0
              Senior-Loken syndrome + 13
              Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 0
              Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 0
              diffuse cystic renal dysplasia 1
              maturity-onset diabetes of the young type 5 5
              nephronophthisis + 57
              non-congenital cyst of kidney 0
              polycystic kidney disease + 140
              renal-hepatic-pancreatic dysplasia + 2
              ventriculomegaly - cystic kidney disease 1
paths to the root