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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 Annotator: match by term: Nephronophthisis 8
ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, PMID:28829391, PMID:29398085, PMID:30311386 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:30311386, 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:30311386, 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:30311386, 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:10508989, PMID:17160906, PMID:18327255, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28289063, PMID:28492532, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, PMID:28829391, PMID:29398085, PMID:30311386 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 familial juvenile
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:30311386, 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 Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:18371931, PMID:20007846, PMID:23559409, PMID:25741868, PMID:26673778, PMID:27894351, PMID:28492532, PMID:30311386 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: 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:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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:10508989, PMID:17160906, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27491411, PMID:28289063, PMID:28492532, PMID:29127258, PMID:29974258, PMID:30311386, 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: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:30311386, PMID:12872122 RGD:11071511 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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: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 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        urinary system disease 2069
          kidney disease 1857
            cystic kidney disease 220
              nephronophthisis 43
                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 1
                nephronophthisis 4 1
                nephronophthisis 7 1
                nephronophthisis 9 1
                nephronophthisis-like nephropathy 1 7
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                nephronophthisis 43
                  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 1
                  nephronophthisis 4 1
                  nephronophthisis 7 1
                  nephronophthisis 9 1
                  nephronophthisis-like nephropathy 1 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.