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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.


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 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 Acot7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,686,562...162,779,309
Ensembl chr 5:162,684,645...162,779,309 		JBrowse link
G Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:30609407 NCBI chr 4:125,290,633...125,462,988
Ensembl chr 4:125,291,490...125,462,929 		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 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297 		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 chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,743,077...60,765,726
Ensembl chr 5:60,743,443...60,765,717 		JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399 		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 Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291 		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 Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 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 Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		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 Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		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 Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		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 chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104 		JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		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 chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
G Gpr153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,781,587...162,792,975
Ensembl chr 5:162,781,587...162,792,971 		JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669 		JBrowse link
G Hes2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,667,190...162,668,235
Ensembl chr 5:162,667,190...162,668,235 		JBrowse link
G Hes3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,793,611...162,799,578
Ensembl chr 5:162,794,367...162,796,261 		JBrowse link
G Icmt isoprenylcysteine carboxyl methyltransferase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,804,368...162,811,129
Ensembl chr 5:162,804,368...162,811,128 		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
Ensembl chr 6:25,081,980...25,120,860 		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 PMID:28492532 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:16522655 PMID:17576681 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 Annotator: match by term: Nephronophthisis 8		 ClinVar
RGD		 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 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,899,511...162,988,057
Ensembl chr 5:162,901,896...162,988,243 		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 Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089 		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 DNA:deletions, nonsense mutations:cds:multiple
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar
RGD		 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 DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar
RGD		 PMID:9536098 PMID:10631142 PMID:12872122 PMID:16199547 PMID:17576681 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 DNA:deletion, missense mutations, splice-site mutation:cds, intron:multiple
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar
RGD		 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 Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733 		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 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513 		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 Rnf207 ring finger protein 207 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,815,351...162,828,325
Ensembl chr 5:162,815,357...162,828,375 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons:
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar
RGD		 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 Rpl22 ribosomal protein L22 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,835,251...162,841,977
Ensembl chr 5:162,833,740...162,843,368 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Sec61b SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:61,773,594...61,781,804
Ensembl chr 5:61,773,594...61,781,804 		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 chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196 		JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451 		JBrowse link
G Tbc1d2 TBC1 domain family, member 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,884,114...60,931,717
Ensembl chr 5:60,884,124...60,931,352 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094 		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 Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956 		JBrowse link
G Tnfrsf25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12205563 PMID:23559409 PMID:28492532 NCBI chr 5:162,621,669...162,626,341
Ensembl chr 5:162,622,075...162,626,341 		JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,800,032...60,825,481
Ensembl chr 5:60,800,032...60,824,858 		JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423 		JBrowse link
G Tstd2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... 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:18371931 PMID:23559409 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
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726 		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 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 complex subunit 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:22425360 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		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 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis
DNA:mutations:exon, intron:multiple
DNA:missense mutations:cds:p.R586X (human)
DNA:deletion: :		 OMIM
ClinVar
RGD		 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 Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis 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
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 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 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: 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 Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		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 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: 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:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 More... 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 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		 OMIM
ClinVar
RGD		 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 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 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 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)		 OMIM
ClinVar
RGD		 PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336 		JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:28492532 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320 		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: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 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 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 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 PMID:28492532 PMID:31821705 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 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 OMIM
ClinVar		 PMID:2702088 PMID:12872123 PMID:16522655 PMID:17855640 PMID:18076122 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:16199547 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 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 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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Nephronophthisis 3
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
RGD		 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 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		 OMIM
ClinVar
RGD		 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 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 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 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		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18199800 PMID:23026745 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 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
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 | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20179356 PMID:28492532 More... 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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        urinary system disease 2383
          kidney disease 2156
            cystic kidney disease 284
              nephronophthisis 100
                Nephronophthisis-like Nephropathy 2 1
                nephronophthisis 1 19
                nephronophthisis 11 1
                nephronophthisis 12 1
                nephronophthisis 13 1
                nephronophthisis 14 1
                nephronophthisis 15 2
                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 3
                nephronophthisis-like nephropathy 1 7
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                nephronophthisis 100
                  Nephronophthisis-like Nephropathy 2 1
                  nephronophthisis 1 19
                  nephronophthisis 11 1
                  nephronophthisis 12 1
                  nephronophthisis 13 1
                  nephronophthisis 14 1
                  nephronophthisis 15 2
                  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 3
                  nephronophthisis-like nephropathy 1 7
paths to the root