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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:nephronophthisis
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Accession:DOID:12712 term browser browse the term
Definition:A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (DO)
Synonyms:exact_synonym: medullary cystic disease;   medullary cystic kidney
 narrow_synonym: Nephronophthisis 8
 xref: GARD:206;   ICD10CM:Q61.5;   NCI:C123200;   OMIM:PS256100;   ORDO:655
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
nephronophthisis term browser
Symbol Object Name 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 chrNW_004936529:5,915,241...5,997,230
Ensembl chrNW_004936529:5,914,539...5,996,902 		JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004936529:5,950,451...5,957,019
Ensembl chrNW_004936529:5,955,300...5,956,352 		JBrowse link
G Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif 9 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 PMID:30609407 NCBI chrNW_004936637:1,787,987...1,946,250
Ensembl chrNW_004936637:1,788,276...1,942,833 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 More... NCBI chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725 		JBrowse link
G Ajap1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004936623:32,900...51,396 JBrowse link
G Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:7,725,444...7,730,869
Ensembl chrNW_004936524:7,725,438...7,731,486 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:7,320,069...7,379,417
Ensembl chrNW_004936524:7,320,497...7,357,350 		JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,735,047...6,757,874
Ensembl chrNW_004936524:6,742,853...6,756,038 		JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chrNW_004936529:6,632,292...6,699,968
Ensembl chrNW_004936529:6,632,197...6,699,998 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936542:2,544,677...2,609,753
Ensembl chrNW_004936542:2,544,665...2,609,792 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:23530209 PMID:24882706 PMID:28492532 NCBI chrNW_004936507:10,671,371...10,792,863
Ensembl chrNW_004936507:10,671,047...10,792,854 		JBrowse link
G Cntrl centriolin ISO MouseDO NCBI chrNW_004936487:9,585,629...9,674,010
Ensembl chrNW_004936487:9,595,516...9,673,144 		JBrowse link
G Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:7,481,541...7,591,452
Ensembl chrNW_004936524:7,481,761...7,590,544 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,819,641...6,845,854
Ensembl chrNW_004936524:6,820,063...6,848,371 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:22425360 PMID:24178751 PMID:25741868 PMID:26092869 PMID:28087721 More... NCBI chrNW_004936518:4,706,496...4,847,283
Ensembl chrNW_004936518:4,706,500...4,847,316 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,628,830...13,808,970
Ensembl chrNW_004936469:13,631,182...13,770,257 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004936529:5,768,229...5,883,841
Ensembl chrNW_004936529:5,785,538...5,883,097 		JBrowse link
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:8,387,234...8,470,776
Ensembl chrNW_004936524:8,383,891...8,470,855 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936477:17,940,792...17,992,996
Ensembl chrNW_004936477:17,937,677...17,993,727 		JBrowse link
G Fam186b family with sequence similarity 186 member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chrNW_004936512:7,306,318...7,331,207
Ensembl chrNW_004936512:7,303,201...7,331,157 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,619,128...6,620,278
Ensembl chrNW_004936524:6,619,128...6,620,278 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588 		JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,944,923...7,297,833
Ensembl chrNW_004936524:6,943,147...7,297,835 		JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:7,379,381...7,410,136
Ensembl chrNW_004936524:7,379,305...7,410,376 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 NCBI chrNW_004936694:161,419...168,012
Ensembl chrNW_004936694:163,501...167,659 		JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15723066 PMID:20881296 PMID:28492532 NCBI chrNW_004936536:8,085,805...8,149,764
Ensembl chrNW_004936536:8,085,777...8,149,986 		JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,690,969...6,699,307 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 chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160 		JBrowse link
G Incenp inner centromere protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chrNW_004936581:999,148...1,028,157
Ensembl chrNW_004936581:999,497...1,025,062 		JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chrNW_004936642:2,950,197...3,025,079
Ensembl chrNW_004936642:2,921,852...3,025,083 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 ClinVar PMID:2702088 PMID:9536098 PMID:11935322 PMID:12872123 PMID:15852005 More... NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004936623:972,288...987,949
Ensembl chrNW_004936623:940,678...985,388 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chrNW_004936483:15,430,735...15,450,872
Ensembl chrNW_004936483:15,431,470...15,449,067 		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 chrNW_004937185:114,823...153,595
Ensembl chrNW_004937185:114,810...138,338 		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 chrNW_004936485:9,089,118...9,114,396
Ensembl chrNW_004936485:9,088,963...9,115,175 		JBrowse link
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902 		JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,429,735...6,465,035
Ensembl chrNW_004936524:6,429,185...6,465,035 		JBrowse link
G Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chrNW_004936518:4,870,686...5,041,099
Ensembl chrNW_004936518:4,869,546...4,969,450 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 ClinVar PMID:9536098 PMID:10631142 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 ClinVar PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chrNW_004936623:802,152...904,198 JBrowse link
G Nr4a3 nuclear receptor subfamily 4 group A member 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:8,252,321...8,290,747
Ensembl chrNW_004936524:8,252,381...8,289,157 		JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chrNW_004936471:27,925,153...28,055,632
Ensembl chrNW_004936471:27,925,153...28,055,632 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chrNW_004936803:1,283,110...1,291,646
Ensembl chrNW_004936803:1,283,077...1,291,674 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936507:5,210,561...5,223,320
Ensembl chrNW_004936507:5,210,504...5,223,728 		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 chrNW_004936489:4,299,810...4,343,996
Ensembl chrNW_004936489:4,298,328...4,343,969 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 ClinVar PMID:18414213 PMID:19430481 PMID:20301500 PMID:25741868 PMID:27434533 More... NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:14,072,182...14,180,552
Ensembl chrNW_004936469:14,101,868...14,179,998 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,063,971...13,153,030
Ensembl chrNW_004936469:13,064,043...13,152,974 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO MouseDO NCBI chrNW_004936526:7,202,147...7,431,455
Ensembl chrNW_004936526:7,202,150...7,430,874 		JBrowse link
G Sec61b SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:7,731,033...7,739,410
Ensembl chrNW_004936524:7,731,058...7,740,310 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chrNW_004936545:2,277,449...2,557,330
Ensembl chrNW_004936545:2,278,290...2,552,552 		JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:8,324,562...8,381,244
Ensembl chrNW_004936524:8,324,569...8,376,114 		JBrowse link
G Tbc1d2 TBC1 domain family member 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,873,625...6,918,171
Ensembl chrNW_004936524:6,875,085...6,918,082 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,268,640...6,323,059
Ensembl chrNW_004936524:6,249,016...6,322,815 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097 		JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chrNW_004936529:6,326,775...6,629,247
Ensembl chrNW_004936529:6,326,702...6,629,898 		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 chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179 		JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,347,089...6,403,996
Ensembl chrNW_004936524:6,326,400...6,403,057 		JBrowse link
G Trim14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,797,788...6,816,582
Ensembl chrNW_004936524:6,797,762...6,816,607 		JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,666,139...6,678,712
Ensembl chrNW_004936524:6,666,662...6,678,657 		JBrowse link
G Tstd2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,394,482...6,429,515
Ensembl chrNW_004936524:6,405,006...6,426,176 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340 		JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chrNW_004936529:5,997,459...6,010,776
Ensembl chrNW_004936529:5,996,707...6,014,227 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO MouseDO NCBI chrNW_004936758:101,629...225,496
Ensembl chrNW_004936758:101,620...225,525 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004936524:6,467,365...6,493,556
Ensembl chrNW_004936524:6,465,104...6,493,610 		JBrowse link
nephronophthisis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:24178751 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 More... NCBI chrNW_004936518:4,706,496...4,847,283
Ensembl chrNW_004936518:4,706,500...4,847,316 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,628,830...13,808,970
Ensembl chrNW_004936469:13,631,182...13,770,257 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936694:161,419...168,012
Ensembl chrNW_004936694:163,501...167,659 		JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chrNW_004936642:2,950,197...3,025,079
Ensembl chrNW_004936642:2,921,852...3,025,083 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:12872123 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 More... NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708 		JBrowse link
G Mall mal, T cell differentiation protein like ISO ClinVar Annotator: match by term: Nephronophthisis 1 ClinVar PMID:10839884 PMID:10980528 NCBI chrNW_004937185:114,823...153,595
Ensembl chrNW_004937185:114,810...138,338 		JBrowse link
G Mtln mitoregulin ISO ClinVar Annotator: match by term: Nephronophthisis 1 ClinVar PMID:10839884 PMID:10980528 NCBI chrNW_004943304:685...1,449 JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:9536098 PMID:12205563 PMID:12244321 PMID:15776426 PMID:17576681 More... NCBI chrNW_004936623:802,152...904,198 JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936507:5,210,561...5,223,320
Ensembl chrNW_004936507:5,210,504...5,223,728 		JBrowse link
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 More... NCBI chrNW_004936489:4,299,810...4,343,996
Ensembl chrNW_004936489:4,298,328...4,343,969 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:14,072,182...14,180,552
Ensembl chrNW_004936469:14,101,868...14,179,998 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,063,971...13,153,030
Ensembl chrNW_004936469:13,064,043...13,152,974 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chrNW_004936545:2,277,449...2,557,330
Ensembl chrNW_004936545:2,278,290...2,552,552 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:17160906 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 More... NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340 		JBrowse link
nephronophthisis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nephronophthisis 11 OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179 		JBrowse link
nephronophthisis 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis 12 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340 		JBrowse link
nephronophthisis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Nephronophthisis 13 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 More... NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979 		JBrowse link
nephronophthisis 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy7 adenylate cyclase 7 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chrNW_004936475:3,368,069...3,393,306
Ensembl chrNW_004936475:3,340,800...3,394,698 		JBrowse link
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chrNW_004936475:3,394,423...3,432,998
Ensembl chrNW_004936475:3,393,373...3,433,103 		JBrowse link
G Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chrNW_004936475:3,163,275...3,176,210
Ensembl chrNW_004936475:3,162,995...3,176,669 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chrNW_004936475:3,750,917...3,812,118
Ensembl chrNW_004936475:3,750,882...3,812,118 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chrNW_004936475:3,189,008...3,222,242
Ensembl chrNW_004936475:3,188,820...3,222,354 		JBrowse link
G Nkd1 NKD inhibitor of WNT signaling pathway 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chrNW_004936475:3,559,754...3,655,216
Ensembl chrNW_004936475:3,579,501...3,655,205 		JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413 		JBrowse link
G Tent4b terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chrNW_004936475:3,266,763...3,328,209 JBrowse link
G Znf423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar Annotator: match by term: ZNF423-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22863007 PMID:25741868 PMID:26539891 More... NCBI chrNW_004936475:2,699,722...2,956,734
Ensembl chrNW_004936475:2,699,702...3,010,912 		JBrowse link
nephronophthisis 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127 		JBrowse link
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,069,683...2,071,344
Ensembl chrNW_004936542:2,069,683...2,071,353 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,106,927...2,108,412
Ensembl chrNW_004936542:2,106,318...2,108,603 		JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,514,297...2,539,088
Ensembl chrNW_004936542:2,514,300...2,539,135 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Nephronophthisis 15 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17954613 PMID:22863007 More... NCBI chrNW_004936542:2,544,677...2,609,753
Ensembl chrNW_004936542:2,544,665...2,609,792 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,619,910...2,939,578
Ensembl chrNW_004936542:2,620,469...2,939,578 		JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,956,784...2,961,076
Ensembl chrNW_004936542:2,956,785...2,963,506 		JBrowse link
G Fxyd6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,974,968...3,005,778
Ensembl chrNW_004936542:2,974,971...3,006,011 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:3,099,484...3,113,159
Ensembl chrNW_004936542:3,099,430...3,113,210 		JBrowse link
G Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,390,904...2,417,596
Ensembl chrNW_004936542:2,390,513...2,414,882 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,450,830...2,478,740
Ensembl chrNW_004936542:2,452,359...2,476,126 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,479,109...2,512,964
Ensembl chrNW_004936542:2,480,127...2,512,161 		JBrowse link
G Sidt2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,426,937...2,443,721
Ensembl chrNW_004936542:2,426,937...2,443,721 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,119,423...2,357,533
Ensembl chrNW_004936542:2,117,349...2,357,539 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:2,445,825...2,451,216
Ensembl chrNW_004936542:2,445,659...2,451,216 		JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chrNW_004936542:3,029,758...3,047,699
Ensembl chrNW_004936542:3,029,758...3,052,345 		JBrowse link
nephronophthisis 16 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23793029 PMID:24610927 PMID:25599650 More... NCBI chrNW_004936524:7,320,069...7,379,417
Ensembl chrNW_004936524:7,320,497...7,357,350 		JBrowse link
nephronophthisis 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Nephronophthisis 18 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23530209 PMID:24882706 More... NCBI chrNW_004936507:10,671,371...10,792,863
Ensembl chrNW_004936507:10,671,047...10,792,854 		JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Nephronophthisis 18 ClinVar PMID:28492532 NCBI chrNW_004936507:10,525,975...10,670,511
Ensembl chrNW_004936507:10,525,975...10,670,514 		JBrowse link
nephronophthisis 19 term browser
Symbol Object Name 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:26467025 PMID:27319779 PMID:27469900 More... NCBI chrNW_004936671:605,114...736,217
Ensembl chrNW_004936671:605,084...736,674 		JBrowse link
nephronophthisis 2 term browser
Symbol Object Name 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 chrNW_004936524:8,387,234...8,470,776
Ensembl chrNW_004936524:8,383,891...8,470,855 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile OMIM
ClinVar		 PMID:2702088 PMID:9536098 PMID:12872123 PMID:15852005 PMID:16199547 More... NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile ClinVar PMID:16199547 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 More... NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340 		JBrowse link
nephronophthisis 20 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:25741868 PMID:28089251 PMID:28492532 PMID:32055034 NCBI chrNW_004936471:5,078,259...5,135,937
Ensembl chrNW_004936471:5,080,944...5,133,783 		JBrowse link
nephronophthisis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18076122 More... NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447 		JBrowse link
nephronophthisis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Nephronophthisis 4 OMIM
ClinVar		 PMID:1248184 PMID:9536098 PMID:12205563 PMID:12244321 PMID:15776426 More... NCBI chrNW_004936623:802,152...904,198 JBrowse link
nephronophthisis 7 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 More... NCBI chrNW_004936694:161,419...168,012
Ensembl chrNW_004936694:163,501...167,659 		JBrowse link
nephronophthisis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA related kinase 8 ISO ClinVar Annotator: match by term: Nephronophthisis 9 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18199800 PMID:22106379 More... NCBI chrNW_004936538:4,938,739...4,952,083
Ensembl chrNW_004936538:4,938,708...4,952,194 		JBrowse link
nephronophthisis-like nephropathy 1 term browser
Symbol Object Name 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 chrNW_004936492:633,443...643,550
Ensembl chrNW_004936492:633,477...646,002 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138 		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 chrNW_004936492:642,434...666,402
Ensembl chrNW_004936492:637,835...666,435 		JBrowse link
G Rangap1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936492:595,905...626,219
Ensembl chrNW_004936492:595,938...626,213 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936492:872,316...890,860
Ensembl chrNW_004936492:873,576...890,835 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Nephronophthisis-Like Nephropathy | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20179356 PMID:21068128 More... NCBI chrNW_004936492:919,963...976,926
Ensembl chrNW_004936492:919,689...976,910 		JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chrNW_004936492:532,883...584,142
Ensembl chrNW_004936492:532,632...584,574 		JBrowse link
Nephronophthisis-like Nephropathy 2 term browser
Symbol Object Name 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 PMID:25741868 PMID:28492532 NCBI chrNW_004936557:6,640,197...6,662,128
Ensembl chrNW_004936557:6,640,813...6,662,699 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14511
    disease of anatomical entity 14163
      Urogenital Diseases 4505
        urinary system disease 2280
          kidney disease 2066
            cystic kidney disease 483
              nephronophthisis 113
                Nephronophthisis-like Nephropathy 2 1
                nephronophthisis 1 23
                nephronophthisis 11 1
                nephronophthisis 12 1
                nephronophthisis 13 1
                nephronophthisis 14 10
                nephronophthisis 15 17
                nephronophthisis 16 1
                nephronophthisis 18 2
                nephronophthisis 19 1
                nephronophthisis 2 3
                nephronophthisis 20 1
                nephronophthisis 3 1
                nephronophthisis 4 1
                nephronophthisis 7 1
                nephronophthisis 9 1
                nephronophthisis-like nephropathy 1 7
Path 2
Term Annotations click to browse term
  disease 14511
    Developmental Disease 12617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11812
        genetic disease 11494
          monogenic disease 9655
            autosomal genetic disease 8942
              autosomal recessive disease 6285
                nephronophthisis 113
                  Nephronophthisis-like Nephropathy 2 1
                  nephronophthisis 1 23
                  nephronophthisis 11 1
                  nephronophthisis 12 1
                  nephronophthisis 13 1
                  nephronophthisis 14 10
                  nephronophthisis 15 17
                  nephronophthisis 16 1
                  nephronophthisis 18 2
                  nephronophthisis 19 1
                  nephronophthisis 2 3
                  nephronophthisis 20 1
                  nephronophthisis 3 1
                  nephronophthisis 4 1
                  nephronophthisis 7 1
                  nephronophthisis 9 1
                  nephronophthisis-like nephropathy 1 7
paths to the root