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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 8:112,594,758...112,676,275
Ensembl chr 8:112,594,691...112,676,280 		JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:112,643,838...112,651,668
Ensembl chr 8:112,644,222...112,648,880 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISS MouseDO NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23351400 PMID:23559409 PMID:25741868 PMID:26047050 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29398085 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327 		JBrowse link
G Cntrl centriolin ISS MouseDO NCBI chr 3:14,299,441...14,371,681
Ensembl chr 3:14,299,479...14,371,681 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:112,697,907...112,830,445
Ensembl chr 8:112,698,348...112,807,598 		JBrowse link
G Fam186b family with sequence similarity 186, member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 7:140,935,645...140,951,071
Ensembl chr 7:140,935,645...140,951,071 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:23559409 PMID:25741868 PMID:28492532 NCBI chr10:11,154,459...11,177,063
Ensembl chr10:11,154,658...11,174,861 		JBrowse link
G Incenp inner centromere protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 1:225,923,448...225,953,384
Ensembl chr 1:225,925,773...225,952,516 		JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:27158779 NCBI chr 2:127,589,325...127,611,705
Ensembl chr 2:127,459,012...127,525,437 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 PMID:21866095 PMID:23559409 PMID:23713026 PMID:24033266 PMID:25741868 PMID:26489027 PMID:28492532 NCBI chr 5:64,031,131...64,180,830
Ensembl chr 5:64,053,946...64,178,759 		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:15723066 PMID:18076122 PMID:19430481 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:22183348 PMID:22261762 PMID:22773737 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23661368 PMID:23847139 PMID:24066033 PMID:24625443 PMID:24674142 PMID:25741868 PMID:25851290 PMID:26274329 PMID:26673778 PMID:28041643 PMID:28492532 PMID:28832562 PMID:29053603 PMID:30718709, PMID:18076122 RGD:11537341 NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576 		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 PMID:28492532 NCBI chr 3:120,272,583...120,307,090
Ensembl chr 3:120,272,583...120,306,551 		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:10620543 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16762963 PMID:18076122 PMID:19118152 PMID:23559409 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25741868 PMID:26477546 PMID:26673778 PMID:27491411 PMID:28492532 PMID:28624958 PMID:29974258, PMID:17855640 RGD:11065524 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Nephronophthisis
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple		 ClinVar PMID:12872122 PMID:17855640 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:23686967 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:28991257 PMID:29801666 PMID:30002499, PMID:17855640 RGD:11065524 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745 		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:11920287 PMID:12205563 PMID:12244321 PMID:15776426 PMID:17855640 PMID:21068128 PMID:21546380 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23217326 PMID:23559409 PMID:24033266 PMID:25445212 PMID:25472526 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:28492532 PMID:29127258, PMID:17855640 RGD:11065524 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660 		JBrowse link
G Pias1 protein inhibitor of activated STAT, 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 8:67,771,720...67,869,015
Ensembl chr 8:67,771,720...67,869,019 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 4:27,698,319...27,708,572
Ensembl chr 4:27,698,323...27,708,743 		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:23188109 PMID:25741868 PMID:27434533 PMID:28492532 PMID:29343940 PMID:29991045, PMID:17558409 RGD:11073359 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055 		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 7:63,968,915...64,251,449
Ensembl chr 7:63,973,279...64,251,110 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:17160906 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28289063 PMID:28492532 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:21258341 PMID:25741868 PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060 		JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISS MouseDO NCBI chr 2:147,577,149...147,693,033
Ensembl chr 2:147,577,089...147,693,082 		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:16909394 PMID:17345604 PMID:17564974 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23351400 PMID:23559409 PMID:25741868 PMID:26047050 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29398085 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327 		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 3:120,272,583...120,307,090
Ensembl chr 3:120,272,583...120,306,551 		JBrowse link
G Mtln mitoregulin ISO ClinVar Annotator: match by term: Nephronophthisis 1 ClinVar PMID:10839884 PMID:10980528 NCBI chr 3:120,372,665...120,373,523 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:9856524 PMID:10712196 PMID:10839884 PMID:10980528 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16762963 PMID:18076122 PMID:23559409 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25741868 PMID:26673778 PMID:27491411 PMID:28492532 PMID:28624958 PMID:29974258, PMID:18076122, PMID:16762963, PMID:21258817, PMID:22982934 RGD:11537341, RGD:7246904, RGD:7246902, RGD:7246900 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:21068128 PMID:28492532 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19430481 PMID:25741868 PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072 		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 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060 		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
ClinVar Annotator: match by OMIM:613550		 OMIM
ClinVar		 PMID:17160906 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:28289063 PMID:28492532 PMID:29127258 PMID:29974258, PMID:20607301, PMID:19508969 RGD:11535942, RGD:11535941 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072 		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
ClinVar Annotator: match by OMIM:613820		 OMIM
ClinVar		 PMID:18414213 PMID:21258341 PMID:22773737 PMID:24033266 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060 		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)
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 PMID:26260382 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:32165824, PMID:26260382, PMID:22019273 RGD:11553845, RGD:11552603 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120 		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: Nephronophthisis 14
ClinVar Annotator: match by OMIM:614844		 OMIM
ClinVar		 PMID:22863007 PMID:25741868 PMID:26539891 PMID:28492532 NCBI chr19:20,147,201...20,405,999
Ensembl chr19:20,147,037...20,406,003 		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
ClinVar Annotator: match by OMIM:614845		 OMIM
ClinVar		 PMID:22863007 PMID:25741868 PMID:28492532 NCBI chr 8:50,069,282...50,132,477
Ensembl chr 8:50,070,579...50,126,413 		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
ClinVar Annotator: match by OMIM:615382		 OMIM
ClinVar		 PMID:23793029 PMID:24610927 PMID:25741868 PMID:28492532 NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964 		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
ClinVar Annotator: match by OMIM:615862		 OMIM
ClinVar		 PMID:24882706 PMID:28492532 NCBI chr 7:35,739,553...35,847,618
Ensembl chr 7:35,773,928...35,847,617 		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 NCBI chr17:41,838,201...42,031,265
Ensembl chr17:41,838,201...42,031,265 		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 5:63,937,866...64,030,827
Ensembl chr 5:63,937,784...64,030,901 		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 PMID:20798123 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:64,031,131...64,180,830
Ensembl chr 5:64,053,946...64,178,759 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Infantile nephronophthisis ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060 		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 ClinVar
OMIM		 PMID:28089251 NCBI chr 3:111,767,126...111,817,103
Ensembl chr 3:111,767,161...111,818,089 		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
ClinVar Annotator: match by term: Adolescent nephronophthisis
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:604387		 OMIM
ClinVar		 PMID:12872122 PMID:17855640 PMID:18371931 PMID:19303681 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:28921755 PMID:29801666, PMID:12872122 RGD:11071511 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Adolescent nephronophthisis ClinVar PMID:18381613 PMID:22147502 PMID:24033266 PMID:25741868 PMID:25787132 PMID:27352967 PMID:27854218 NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675 		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
ClinVar Annotator: match by OMIM:606966		 OMIM
ClinVar		 PMID:1248184 PMID:12205563 PMID:12244321 PMID:15776426 PMID:17855640 PMID:21068128 PMID:21546380 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23217326 PMID:23559409 PMID:24033266 PMID:25445212 PMID:25472526 PMID:25558065 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:28492532 PMID:29127258, PMID:12205563, PMID:14750102, PMID:18076122 RGD:11537355, RGD:11537342, RGD:11537341 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660 		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
ClinVar Annotator: match by OMIM:611498		 OMIM
ClinVar		 PMID:17618285 PMID:23559409 PMID:25741868 PMID:28492532 NCBI chr10:11,154,459...11,177,063
Ensembl chr10:11,154,658...11,174,861 		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
ClinVar Annotator: match by OMIM:613824		 OMIM
ClinVar		 PMID:18199800 PMID:23026745 PMID:23418306 PMID:25741868 PMID:26967905 PMID:28492532 NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143 		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 chr 7:122,915,847...122,929,127
Ensembl chr 7:122,922,022...122,926,336 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296 		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 7:122,896,860...122,918,025
Ensembl chr 7:122,896,871...122,918,036 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:122,939,266...122,967,178
Ensembl chr 7:122,940,376...122,967,178 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:122,700,849...122,710,907
Ensembl chr 7:122,700,854...122,709,935 		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:20179356 PMID:28492532 NCBI chr 7:122,636,252...122,686,983
Ensembl chr 7:122,636,171...122,688,819 		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 7:122,978,999...123,027,166
Ensembl chr 7:122,979,021...123,027,150 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        urinary system disease 2074
          kidney disease 1858
            cystic kidney disease 211
              nephronophthisis 44
                nephronophthisis 1 8
                nephronophthisis 11 1
                nephronophthisis 12 1
                nephronophthisis 13 1
                nephronophthisis 14 1
                nephronophthisis 15 1
                nephronophthisis 16 1
                nephronophthisis 18 1
                nephronophthisis 19 1
                nephronophthisis 2 3
                nephronophthisis 20 1
                nephronophthisis 3 2
                nephronophthisis 4 1
                nephronophthisis 7 1
                nephronophthisis 9 1
                nephronophthisis-like nephropathy 1 7
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                nephronophthisis 44
                  nephronophthisis 1 8
                  nephronophthisis 11 1
                  nephronophthisis 12 1
                  nephronophthisis 13 1
                  nephronophthisis 14 1
                  nephronophthisis 15 1
                  nephronophthisis 16 1
                  nephronophthisis 18 1
                  nephronophthisis 19 1
                  nephronophthisis 2 3
                  nephronophthisis 20 1
                  nephronophthisis 3 2
                  nephronophthisis 4 1
                  nephronophthisis 7 1
                  nephronophthisis 9 1
                  nephronophthisis-like nephropathy 1 7
paths to the root