Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Nephronophthisis
go back to main search page
Accession:HP:0000090 term browser browse the term
Definition:Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
Comment:Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli.
Synonyms:exact_synonym: juvenile nephronophthisis
 alt_id: HP:0004748
 xref: SNOMEDCT_US:204958008;   UMLS:C0687120


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 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 3:132,558,141...132,659,809
Ensembl chr 3:132,558,138...132,660,082 		JBrowse link
G ACKR4 atypical chemokine receptor 4 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 3:132,597,270...132,602,644
Ensembl chr 3:132,597,270...132,618,967 		JBrowse link
G ACOT7 acyl-CoA thioesterase 7 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,264,272...6,393,767
Ensembl chr 1:6,264,269...6,393,767 		JBrowse link
G ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 PMID:30609407 NCBI chr 3:64,515,654...64,688,000
Ensembl chr 3:64,515,654...64,688,000 		JBrowse link
G ADAMTS9-AS1 ADAMTS9 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:30609407 NCBI chr 3:64,561,346...64,590,084
Ensembl chr 3:64,561,322...64,592,757 		JBrowse link
G ADAMTS9-AS2 ADAMTS9 antisense RNA 2 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 PMID:30609407 NCBI chr 3:64,684,870...65,011,468
Ensembl chr 3:64,684,909...65,053,439 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar
HPO		 PMID:15322546 PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 More... OMIM:608629 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G AJAP1 adherens junctions associated protein 1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 1:4,654,609...4,792,534
Ensembl chr 1:4,654,609...4,792,534 		JBrowse link
G AL133297.2 novel transcript, antisense to IFT140 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:9536098 PMID:17576681 PMID:22503633 PMID:25741868 PMID:28288023 More... NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar
HPO		 PMID:12872123 PMID:28492532 OMIM:615382 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		JBrowse link
G ANP32B acidic nuclear phosphoprotein 32 family member B IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:97,983,341...98,015,943
Ensembl chr 9:97,983,341...98,015,943 		JBrowse link
G BFSP2 beaded filament structural protein 2 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chr 3:133,400,056...133,475,208
Ensembl chr 3:133,400,056...133,475,222 		JBrowse link
G C12orf50 chromosome 12 open reading frame 50 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr12:87,980,035...88,030,232
Ensembl chr12:87,980,035...88,034,037 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP164 centrosomal protein 164 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:614845 ORPHA:3156 NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis
DNA:frameshift mutations, nonsense mutations:CDS:multiple		 ClinVar
HPO
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... OMIM:610188 ORPHA:3156, RGD:329853747 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO OMIM:614464 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G CEP83 centrosomal protein 83 IAGP ClinVar Annotator: match by term: Nephronophthisis HPO
ClinVar		 PMID:23530209 PMID:24882706 PMID:28492532 OMIM:615862 NCBI chr12:94,265,662...94,460,454
Ensembl chr12:94,306,449...94,459,988 		JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,101,787...6,180,321
Ensembl chr 1:6,101,787...6,180,321 		JBrowse link
G COL15A1 collagen type XV alpha 1 chain IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:98,943,907...99,070,787
Ensembl chr 9:98,943,179...99,070,787 		JBrowse link
G CORO2A coronin 2A IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:98,120,975...98,192,637
Ensembl chr 9:98,120,975...98,192,637 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar PMID:22425360 PMID:24178751 PMID:25741868 PMID:26092869 PMID:28087721 More... NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407 		JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO OMIM:616217 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:474 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:474 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G ERP44 endoplasmic reticulum protein 44 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:99,979,185...100,099,000
Ensembl chr 9:99,979,185...100,099,052 		JBrowse link
G ESPN espin IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G FAM186B family with sequence similarity 186 member B IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr12:49,582,873...49,622,758
Ensembl chr12:49,582,885...49,605,639 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP HPO OMIM:614817 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108 		JBrowse link
G FOXE1 forkhead box E1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:98,807,670...98,850,081
Ensembl chr 9:98,807,670...98,850,081 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G GLIS2 GLIS family zinc finger 2 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar
HPO		 PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 OMIM:611498 NCBI chr16:4,314,761...4,339,595
Ensembl chr16:4,314,761...4,339,597 		JBrowse link
G GOLGB1 golgin B1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15723066 PMID:20881296 PMID:28492532 NCBI chr 3:121,663,201...121,749,966
Ensembl chr 3:121,663,199...121,749,966 		JBrowse link
G GPR153 G protein-coupled receptor 153 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,247,353...6,261,098
Ensembl chr 1:6,247,353...6,261,098 		JBrowse link
G HEMGN hemogen IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:97,926,791...97,944,852
Ensembl chr 9:97,926,791...97,944,856 		JBrowse link
G HES2 hes family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,415,232...6,419,919
Ensembl chr 1:6,412,418...6,424,670 		JBrowse link
G HES3 hes family bHLH transcription factor 3 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,244,179...6,245,578
Ensembl chr 1:6,244,179...6,245,578 		JBrowse link
G ICMT isoprenylcysteine carboxyl methyltransferase IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,221,193...6,235,964
Ensembl chr 1:6,221,193...6,235,972 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar
HPO		 PMID:9536098 PMID:17576681 PMID:22503633 PMID:25741868 PMID:28288023 More... OMIM:266920 ORPHA:474 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar
HPO		 PMID:25741868 OMIM:615630 ORPHA:474 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO OMIM:614099 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:474 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G INCENP inner centromere protein IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr11:62,124,011...62,153,169
Ensembl chr11:62,123,998...62,153,169 		JBrowse link
G INTU inturned planar cell polarity protein IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G INVS inversin IAGP ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar
HPO		 PMID:2702088 PMID:9536098 PMID:11935322 PMID:12872123 PMID:15852005 More... OMIM:602088 ORPHA:3156 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar
HPO		 PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... OMIM:609254 ORPHA:3156 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KITLG KIT ligand IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851 		JBrowse link
G LOC126806306 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:110906815-110908014 IAGP ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar PMID:8852662 PMID:9326933 PMID:9856524 PMID:10620543 PMID:10712196 More... NCBI chr 2:110,149,238...110,150,437 JBrowse link
G LOC126807151 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr 4:127,686,687...127,687,886 JBrowse link
G LOC129390514 MPRA-validated peak1864 silencer IAGP ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar PMID:9536098 PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 More... NCBI chr12:88,062,639...88,062,839 JBrowse link
G LOC129937586 ATAC-STARR-seq lymphoblastoid silent region 14743 IAGP ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar PMID:17855640 PMID:18371931 PMID:23559409 PMID:24033266 PMID:25741868 More... NCBI chr 3:132,722,066...132,722,315 JBrowse link
G LOC129937587 ATAC-STARR-seq lymphoblastoid silent region 14744 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:25741868 NCBI chr 3:132,722,416...132,722,925 JBrowse link
G LOC130002251 ATAC-STARR-seq lymphoblastoid silent region 20132 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:100,099,307...100,099,516 JBrowse link
G LOC130008346 ATAC-STARR-seq lymphoblastoid active region 6699 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19764032 PMID:28492532 NCBI chr12:88,063,628...88,063,687 JBrowse link
G MALL mal, T cell differentiation protein like IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:8852662 PMID:10620543 PMID:10839884 PMID:15138899 PMID:24746959 More... NCBI chr 2:110,083,870...110,118,139
Ensembl chr 2:110,083,870...110,116,022 		JBrowse link
G MAPKBP1 mitogen-activated protein kinase binding protein 1 IAGP HPO OMIM:617271 NCBI chr15:41,774,484...41,827,855
Ensembl chr15:41,774,434...41,827,855 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 More... NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:97,633,821...97,673,748
Ensembl chr 9:97,633,668...97,673,748 		JBrowse link
G NEK8 NIMA related kinase 8 IAGP HPO OMIM:613824 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar
HPO		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... OMIM:256100 OMIM:266900 OMIM:609583 ORPHA:3156 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar
HPO		 PMID:9536098 PMID:10631142 PMID:12872122 PMID:16199547 PMID:17576681 More... OMIM:604387 ORPHA:3156 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar PMID:9536098 PMID:10631142 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,874,223 		JBrowse link
G NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar
HPO		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... OMIM:606966 OMIM:606996 ORPHA:3156 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:99,821,885...99,866,891
Ensembl chr 9:99,821,855...99,866,891 		JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr15:68,054,315...68,193,847
Ensembl chr15:68,054,309...68,198,603 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
G RBM48 RNA binding motif protein 48 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 7:92,528,795...92,540,481
Ensembl chr 7:92,528,773...92,540,481 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 More... NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158 		JBrowse link
G RNF207 ring finger protein 207 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,206,119...6,221,299
Ensembl chr 1:6,205,475...6,221,299 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP DNA:missense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: juvenile nephronophthisis		 HPO
ClinVar
RGD		 PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 PMID:17960139 OMIM:611560 OMIM:619113, RGD:11537350 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPL22 ribosomal protein L22 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,185,020...6,199,595
Ensembl chr 1:6,185,020...6,209,389 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO OMIM:613615 ORPHA:3156 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SEC61B SEC61 translocon subunit beta IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:99,222,282...99,230,615
Ensembl chr 9:99,222,064...99,230,615 		JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chr12:63,844,700...64,162,217
Ensembl chr12:63,843,761...64,162,217 		JBrowse link
G STX17 syntaxin 17 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:99,906,654...99,974,534
Ensembl chr 9:99,906,654...99,974,534 		JBrowse link
G TBC1D2 TBC1 domain family member 2 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:98,198,998...98,255,649
Ensembl chr 9:98,199,011...98,255,649 		JBrowse link
G TDRD7 tudor domain containing 7 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:97,412,096...97,496,125
Ensembl chr 9:97,412,096...97,496,125 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TMEM108 transmembrane protein 108 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chr 3:133,038,391...133,397,775
Ensembl chr 3:133,038,391...133,397,775 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO OMIM:614465 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO OMIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis
associated with liver cirrhosis;DNA:missense mutations:CDS:multiple
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar
HPO
RGD		 PMID:17160906 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 More... OMIM:216360 OMIM:602152 OMIM:610688 OMIM:613550 ORPHA:140976, RGD:329951006 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TMOD1 tropomodulin 1 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:97,501,180...97,601,743
Ensembl chr 9:97,501,180...97,601,743 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
G TNFRSF25 TNF receptor superfamily member 25 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 1:6,460,786...6,466,173
Ensembl chr 1:6,460,786...6,466,175 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO OMIM:616629 ORPHA:3156 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897 		JBrowse link
G TRIM14 tripartite motif containing 14 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:98,035,797...98,119,222
Ensembl chr 9:98,069,275...98,119,222 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:184260 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRMO tRNA methyltransferase O IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:97,896,855...97,922,500
Ensembl chr 9:97,904,489...97,922,500 		JBrowse link
G TSTD2 thiosulfate sulfurtransferase like domain containing 2 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:97,600,080...97,633,368
Ensembl chr 9:97,600,080...97,633,368 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar
HPO		 PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More... OMIM:613820 ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614377 OMIM:616307 ORPHA:3156 ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
G XPNPEP3 X-prolyl aminopeptidase 3 IAGP HPO OMIM:613159 NCBI chr22:40,857,148...40,932,815
Ensembl chr22:40,857,077...40,932,815 		JBrowse link
G ZNF423 zinc finger protein 423 IAGP HPO OMIM:614844 NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the genitourinary system 4426
        Abnormality of the urinary system 2351
          Abnormality of the upper urinary tract 1713
            Abnormality of the kidney 1680
              Abnormal renal morphology 1271
                Abnormal renal medulla morphology 144
                  Nephronophthisis 119
paths to the root