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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:nephrotic syndrome
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Accession:DOID:1184 term browser browse the term
Definition:A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. (DO)
Synonyms:exact_synonym: Nephrotic Syndromes
 narrow_synonym: NEPHROTIC RANGE PROTEINURIA
 primary_id: MESH:D009404
 xref: EFO:0004255;   ICD9CM:581;   NCI:C34845
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO protein:increased expression:kidney (rat) RGD PMID:19147991 RGD:2307223 NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056 		JBrowse link
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936801:1,333,077...1,402,885
Ensembl chrNW_004936801:1,333,077...1,404,054 		JBrowse link
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10453743 PMID:15110324 PMID:15327387 PMID:15464418 PMID:17495019 More... NCBI chrNW_004936745:856,915...867,477
Ensembl chrNW_004936745:857,102...867,477 		JBrowse link
G Alms1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:17,152,759...17,342,648 JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:19194550 RGD:2317535 NCBI chrNW_004936554:7,807,914...7,848,691
Ensembl chrNW_004936554:7,808,355...7,867,931 		JBrowse link
G Anln anillin actin binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936478:11,873,676...11,934,425
Ensembl chrNW_004936478:11,880,103...11,933,247 		JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:18614621 RGD:2313652 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chrNW_004936706:1,531,219...1,531,921 JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chrNW_004936542:2,106,927...2,108,412
Ensembl chrNW_004936542:2,106,318...2,108,603 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004936896:57,250...213,918
Ensembl chrNW_004936896:145,297...214,794 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chrNW_004936594:5,383,370...5,386,618
Ensembl chrNW_004936594:5,383,380...5,386,494 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004936586:1,782,581...1,809,458
Ensembl chrNW_004936586:1,782,528...1,810,010 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 More... NCBI chrNW_004936481:9,531,655...9,609,564 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155 		JBrowse link
G Cd2 CD2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chrNW_004936627:1,902,120...1,915,257
Ensembl chrNW_004936627:1,902,120...1,915,257 		JBrowse link
G Cdk20 cyclin dependent kinase 20 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29127259 NCBI chrNW_004936854:810,996...817,136
Ensembl chrNW_004936854:812,575...817,202 		JBrowse link
G Cfi complement factor I disease_progression ISO RGD PMID:9745775 RGD:108019049 NCBI chrNW_004936563:960,883...998,136
Ensembl chrNW_004936563:960,883...988,634 		JBrowse link
G Cfl1 cofilin 1 treatment ISO RGD PMID:24737737 RGD:11570418 NCBI chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:15086899 PMID:15895257 PMID:19657328 PMID:22083641 PMID:23566014 More... NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814 		JBrowse link
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:19008299 PMID:25741868 PMID:29127259 NCBI chrNW_004936655:1,020,363...1,032,847
Ensembl chrNW_004936655:1,017,169...1,032,816 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375 NCBI chrNW_004936525:8,642,744...8,774,975 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:21196518 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:9848783 PMID:15044104 More... NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:25349199 More... NCBI chrNW_004936738:1,354,424...1,371,497 JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33532864 NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chrNW_004936857:577,067...609,855
Ensembl chrNW_004936857:577,585...626,267 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10556299 PMID:19580442 PMID:24464559 PMID:25741868 PMID:29127259 NCBI chrNW_004936677:342,964...360,890
Ensembl chrNW_004936677:343,042...360,879 		JBrowse link
G Ctsl cathepsin L ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:15197181 RGD:1304337 NCBI chrNW_004936680:3,047,355...3,050,640 JBrowse link
G Ddc dopa decarboxylase ISO protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chrNW_004936686:1,322,153...1,405,434
Ensembl chrNW_004936686:1,301,207...1,405,384 		JBrowse link
G Ddx53 DEAD-box helicase 53 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004936624:1,436,134...1,438,389 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chrNW_004936470:7,916,438...7,926,089
Ensembl chrNW_004936470:7,916,438...7,926,088 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 PMID:29127259 NCBI chrNW_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34783119 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Ednra endothelin receptor type A ISO mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chrNW_004936535:1,950,117...2,005,786
Ensembl chrNW_004936535:1,949,941...2,005,910 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23128049 RGD:11041725 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26905694 PMID:28492532 NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chrNW_004936677:2,774,076...2,779,660 JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO RGD PMID:18614621 RGD:2313652 NCBI chrNW_004936486:2,754,753...2,823,600
Ensembl chrNW_004936486:2,754,751...2,823,665 		JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chrNW_004936472:17,492,183...17,708,067 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO mRNA:increased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:plasma
mRNA:decreased expression:kidney		 RGD PMID:12824952 PMID:20685819 RGD:1625122 RGD:7205671 NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO mRNA:decreased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chrNW_004936588:506,101...508,469
Ensembl chrNW_004936588:506,147...508,101 		JBrowse link
G Guca2b guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chrNW_004936474:23,632,836...23,634,330
Ensembl chrNW_004936474:23,632,781...23,634,496 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chrNW_004936475:17,882,663...17,888,708
Ensembl chrNW_004936475:17,882,575...17,887,748 		JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO RGD PMID:11248742 RGD:12910863 NCBI chrNW_004936694:2,205,294...2,207,343
Ensembl chrNW_004936694:2,204,182...2,207,328 		JBrowse link
G Il1b interleukin 1 beta severity ISO associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)
protein:increased expression:serum (human)		 RGD PMID:14760799 PMID:21103916 PMID:21359962 RGD:7175324 RGD:7175337 RGD:7175339 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) RGD PMID:14758530 RGD:6907374 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22665336 RGD:7240715 NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29127259 NCBI chrNW_004936621:677,548...693,609
Ensembl chrNW_004936621:682,027...693,605 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:22512483 PMID:29127259 NCBI chrNW_004936490:11,553,904...11,583,387
Ensembl chrNW_004936490:11,553,861...11,583,380 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29773874 NCBI chrNW_004936500:8,490,514...8,678,127
Ensembl chrNW_004936500:8,468,940...8,612,942 		JBrowse link
G Itsn2 intersectin 2 ISO MouseDO NCBI chrNW_004936493:7,716,424...7,842,818
Ensembl chrNW_004936493:7,738,630...7,842,814 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867 		JBrowse link
G Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO RGD PMID:21606114 RGD:7244390 NCBI chrNW_004936572:3,396,329...3,425,848
Ensembl chrNW_004936572:3,421,557...3,425,276 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11317351 PMID:11854170 PMID:12039988 PMID:18503012 PMID:20507940 More... NCBI chrNW_004936570:485,202...493,350
Ensembl chrNW_004936570:486,249...493,356 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23999528 PMID:24130771 PMID:25741868 PMID:26553438 PMID:28492532 More... NCBI chrNW_004936514:9,928,234...9,973,425
Ensembl chrNW_004936514:9,928,316...9,973,349 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:2206901 PMID:9536098 PMID:15367484 PMID:17576681 PMID:18672223 More... NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G Lipc lipase C, hepatic type ISO protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chrNW_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902 		JBrowse link
G LOC101959212 alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:9453001 PMID:11304663 RGD:10046046 NCBI chrNW_004936870:424,832...468,303
Ensembl chrNW_004936870:424,951...468,167 		JBrowse link
G LOC101968921 angiotensin-converting enzyme treatment ISO protein:increased activity:multiple RGD PMID:2175683 PMID:15942045 RGD:11038913 RGD:1598707 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G LOC101970831 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chrNW_004936529:6,917,762...6,947,512
Ensembl chrNW_004936529:6,855,958...6,947,394 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chrNW_004936493:5,246,803...5,258,147
Ensembl chrNW_004936493:5,248,059...5,258,147 		JBrowse link
G Mxra5 matrix remodeling associated 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004936644:2,502,334...2,528,278 JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29127259 NCBI chrNW_004936471:20,244,424...20,435,604
Ensembl chrNW_004936471:20,244,397...20,435,648 		JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004936529:9,647,161...9,718,512
Ensembl chrNW_004936529:9,701,530...9,721,869 		JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004936764:141,159...185,482
Ensembl chrNW_004936764:140,946...185,529 		JBrowse link
G Nfkbia NFKB inhibitor alpha exacerbates ISO protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:17441336 RGD:127285019 NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		JBrowse link
G Noc3l NOC3 like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004936601:782,923...811,598
Ensembl chrNW_004936601:782,901...816,185 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
mRNA,protein:decreased expression:podocyte (mouse)		 RGD
MouseDO		 PMID:15942045 PMID:22493483 RGD:1598707 RGD:38599005 NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin treatment ISO ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome RGD
ClinVar		 PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... RGD:1598707 NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 treatment ISO RGD PMID:15833166 RGD:7174719 NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:30655312 More... NCBI chrNW_004936475:8,930,320...9,027,840
Ensembl chrNW_004936475:8,930,314...9,032,287 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11519896 PMID:15966048 PMID:18019379 PMID:21791310 PMID:25741868 More... NCBI chrNW_004936877:659,881...666,169
Ensembl chrNW_004936877:659,874...666,026 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214 		JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:17186472 PMID:17374725 PMID:19096106 PMID:20689595 PMID:23816342 More... NCBI chrNW_004936564:3,529,140...3,813,449
Ensembl chrNW_004936564:3,583,396...3,813,155 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased activity:plasma RGD PMID:8692015 PMID:15292677 RGD:7248795 RGD:7257517 NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998 		JBrowse link
G Plce1 phospholipase C epsilon 1 onset ISO DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome		 RGD
ClinVar		 PMID:17086182 PMID:25741868 PMID:28492532 PMID:29127259 RGD:7257519 NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830 		JBrowse link
G Podxl podocalyxin like ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29244787 PMID:30523047 NCBI chrNW_004936579:3,960,338...3,970,925 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19194550 RGD:2317535 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO RGD PMID:15075188 RGD:1624161 NCBI chrNW_004936709:1,377,852...1,403,398
Ensembl chrNW_004936709:1,377,831...1,403,833 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO RGD PMID:15075188 RGD:1624161 NCBI chrNW_004936501:8,021,090...8,065,245
Ensembl chrNW_004936501:8,020,316...8,065,332 		JBrowse link
G Serpinc1 serpin family C member 1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7532794 PMID:8979144 PMID:11304663 RGD:11035294 RGD:11038563 NCBI chrNW_004936481:13,981,014...13,993,750
Ensembl chrNW_004936481:13,981,019...13,993,634 		JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23232022 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28492532 More... NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041 		JBrowse link
G Slc35f1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004936658:851,751...1,238,263
Ensembl chrNW_004936658:1,076,196...1,238,276 		JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17803470 RGD:1643224 NCBI chrNW_004936535:3,582,512...3,626,312
Ensembl chrNW_004936535:3,582,489...3,657,063 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047 		JBrowse link
G Soat2 sterol O-acyltransferase 2 ISO mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chrNW_004936512:10,420,847...10,430,813
Ensembl chrNW_004936512:10,420,804...10,430,881 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9152291 RGD:11035285 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Synpo synaptopodin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33615071 NCBI chrNW_004936504:4,321,985...4,358,757
Ensembl chrNW_004936504:4,321,962...4,358,294 		JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:31732614 NCBI chrNW_004936499:7,876,238...7,946,054
Ensembl chrNW_004936499:7,876,230...7,946,068 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 PMID:8023968 PMID:10515446 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G Tns2 tensin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29773874 NCBI chrNW_004936512:10,376,442...10,390,421
Ensembl chrNW_004936512:10,371,684...10,393,156 		JBrowse link
G Tprkb TP53RK binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28805828 PMID:29127259 NCBI chrNW_004936491:17,493,630...17,500,779
Ensembl chrNW_004936491:17,493,285...17,500,523 		JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:15924139 PMID:19129465 PMID:21734084 PMID:23645677 PMID:25741868 More... NCBI chrNW_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chrNW_004936503:2,407,040...2,440,366
Ensembl chrNW_004936503:2,405,689...2,440,502 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:16217710 PMID:25741868 PMID:25873735 PMID:26123727 PMID:27001912 More... NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 OMIM
ClinVar		 PMID:32554502 NCBI chrNW_004936927:134,770...144,057 JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 OMIM
ClinVar		 PMID:32554502 NCBI chrNW_004936673:2,829,599...2,830,407 JBrowse link
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chrNW_004936677:219,459...232,545 JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE OMIM
ClinVar		 PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chrNW_004936677:342,964...360,890
Ensembl chrNW_004936677:343,042...360,879 		JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chrNW_004936677:314,328...342,892
Ensembl chrNW_004936677:314,294...342,855 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chrNW_004936677:361,300...367,234 JBrowse link
G Trpv1 transient receptor potential cation channel subfamily V member 1 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chrNW_004936677:277,304...326,907
Ensembl chrNW_004936677:276,994...327,025 		JBrowse link
G Trpv3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chrNW_004936677:239,133...270,512
Ensembl chrNW_004936677:239,435...270,512 		JBrowse link
Diffuse Mesangial Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25514610 PMID:25741868 PMID:28492532 PMID:28632965 NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
familial nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:14675423 PMID:14978175 More... NCBI chrNW_004936481:9,531,655...9,609,564 JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Familial nephrotic syndrome ClinVar PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 More... NCBI chrNW_004936570:485,202...493,350
Ensembl chrNW_004936570:486,249...493,356 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534 		JBrowse link
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar		 PMID:16199547 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 More... NCBI chrNW_004936490:11,553,904...11,583,387
Ensembl chrNW_004936490:11,553,861...11,583,380 		JBrowse link
lipoid nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:24119646 RGD:10043363 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:17429054 RGD:2290347 NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373 		JBrowse link
G Il17a interleukin 17A ISO Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Lgals1 galectin 1 ISO protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chrNW_004936492:3,407,704...3,411,197
Ensembl chrNW_004936492:3,407,049...3,411,222 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Lipoid nephrosis ClinVar PMID:23687361 PMID:32581362 NCBI chrNW_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 severity
no_association		 ISO DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
DNA:polymorphism:3' utr:2964G>A (human)		 RGD PMID:12900808 PMID:15687724 PMID:19011907 RGD:7244138 RGD:7244144 RGD:7244146 NCBI chrNW_004936646:1,297,530...1,312,508
Ensembl chrNW_004936646:1,296,290...1,312,157 		JBrowse link
nephrotic syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:12384774 PMID:25741868 PMID:28492532 NCBI chrNW_004936501:3,469,928...3,508,577 JBrowse link
G Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:2296603 PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 More... NCBI chrNW_004936530:4,948,130...4,957,306 JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chrNW_004936594:5,383,370...5,386,618
Ensembl chrNW_004936594:5,383,380...5,386,494 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:11805166 PMID:12464671 PMID:12707396 PMID:14978175 PMID:15253708 More... NCBI chrNW_004936481:9,531,655...9,609,564 JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition ClinVar PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 PMID:12039988 More... NCBI chrNW_004936570:485,202...493,350
Ensembl chrNW_004936570:486,249...493,356 		JBrowse link
G LOC101968920 eotaxin ISO RGD PMID:9892814 RGD:7248412 NCBI chrNW_004936538:835,436...848,907
Ensembl chrNW_004936538:835,859...837,710
Ensembl chrNW_004936538:835,859...837,710 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 More... NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 More... NCBI chrNW_004936666:18,303...110,357
Ensembl chrNW_004936666:19,387...110,014 		JBrowse link
G Spink1 serine peptidase inhibitor Kazal type 1 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 More... NCBI chrNW_004936504:6,975,044...6,981,304
Ensembl chrNW_004936504:6,975,044...6,981,304 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:22099579 PMID:25741868 PMID:27719739 NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
nephrotic syndrome type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: EMP2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 10 OMIM
ClinVar		 PMID:24814193 PMID:25741868 PMID:28106320 PMID:28492532 NCBI chrNW_004936530:8,854,266...8,862,127
Ensembl chrNW_004936530:8,854,203...8,862,126 		JBrowse link
nephrotic syndrome type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 11 OMIM
ClinVar		 PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222 NCBI chrNW_004936545:6,600,124...6,642,839
Ensembl chrNW_004936545:6,600,088...6,642,870 		JBrowse link
nephrotic syndrome type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 12 ClinVar PMID:25741868 NCBI chrNW_004936530:71,965...143,940
Ensembl chrNW_004936530:71,920...143,940 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864 NCBI chrNW_004936475:8,930,320...9,027,840
Ensembl chrNW_004936475:8,930,314...9,032,287 		JBrowse link
nephrotic syndrome type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: NUP205-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 13 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 NCBI chrNW_004936592:363,723...431,966
Ensembl chrNW_004936592:363,748...431,986 		JBrowse link
nephrotic syndrome type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome 14 | ClinVar Annotator: match by term: SGPL1-related condition OMIM
ClinVar		 PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More... NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041 		JBrowse link
nephrotic syndrome type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 More... NCBI chrNW_004936479:21,373,917...22,062,498
Ensembl chrNW_004936479:21,373,746...21,920,214 		JBrowse link
nephrotic syndrome type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chrNW_004936659:1,320,169...1,340,137
Ensembl chrNW_004936659:1,321,980...1,337,746 		JBrowse link
nephrotic syndrome type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 17 ClinVar PMID:25741868 PMID:30179222 NCBI chrNW_004936594:531,844...548,487
Ensembl chrNW_004936594:532,342...548,440 		JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: NUP85-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chrNW_004936594:503,698...531,851
Ensembl chrNW_004936594:503,720...531,875 		JBrowse link
nephrotic syndrome type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chrNW_004936484:20,185,558...20,230,904
Ensembl chrNW_004936484:20,185,584...20,231,352 		JBrowse link
nephrotic syndrome type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: NUP160-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 19 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chrNW_004936562:1,435,938...1,491,439
Ensembl chrNW_004936562:1,435,973...1,490,890 		JBrowse link
nephrotic syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chrNW_004936662:926,302...959,964
Ensembl chrNW_004936662:925,940...939,451 		JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chrNW_004936646:1,930,447...1,952,069
Ensembl chrNW_004936646:1,930,656...1,948,991 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More... NCBI chrNW_004936481:9,531,655...9,609,564 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chrNW_004936525:8,642,744...8,774,975 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More... NCBI chrNW_004936487:11,793,078...11,813,803
Ensembl chrNW_004936487:11,793,005...11,812,934 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome ClinVar PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798 NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome OMIM
ClinVar		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856 		JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004936592:363,723...431,966
Ensembl chrNW_004936592:363,748...431,986 		JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004936475:8,930,320...9,027,840
Ensembl chrNW_004936475:8,930,314...9,032,287 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chrNW_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214 		JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047 		JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chrNW_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chrNW_004936646:1,919,326...1,936,694
Ensembl chrNW_004936646:1,908,304...1,930,287 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004936476:16,434,629...16,481,044
Ensembl chrNW_004936476:16,434,638...16,481,044 		JBrowse link
nephrotic syndrome type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 20 | ClinVar Annotator: match by term: TBC1D8B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30661770 PMID:31732614 NCBI chrNW_004936499:7,876,238...7,946,054
Ensembl chrNW_004936499:7,876,230...7,946,068 		JBrowse link
nephrotic syndrome type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: AVIL-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 21 OMIM
ClinVar		 PMID:25741868 PMID:29058690 NCBI chrNW_004936646:1,930,447...1,952,069
Ensembl chrNW_004936646:1,930,656...1,948,991 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 21 ClinVar PMID:25741868 PMID:29058690 NCBI chrNW_004936646:1,919,326...1,936,694
Ensembl chrNW_004936646:1,908,304...1,930,287 		JBrowse link
nephrotic syndrome type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kirrel1 kirre like nephrin family adhesion molecule 1 ISO ClinVar Annotator: match by term: KIRREL1-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 23 OMIM
ClinVar		 PMID:25741868 PMID:31472902 NCBI chrNW_004936847:820,538...844,829
Ensembl chrNW_004936847:821,479...841,988 		JBrowse link
Nephrotic Syndrome Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 24 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33232676 NCBI chrNW_004936476:19,771,204...19,878,462
Ensembl chrNW_004936476:19,771,204...19,815,657 		JBrowse link
Nephrotic Syndrome Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: LAMA5-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 26 ClinVar
OMIM		 PMID:24130771 PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 More... NCBI chrNW_004936514:9,928,234...9,973,425
Ensembl chrNW_004936514:9,928,316...9,973,349 		JBrowse link
nephrotic syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Noc3l NOC3 like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition ClinVar PMID:17086182 PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 More... NCBI chrNW_004936601:782,923...811,598
Ensembl chrNW_004936601:782,901...816,185 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 | ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition OMIM
ClinVar		 PMID:17086182 PMID:18709391 PMID:18975016 PMID:20507940 PMID:20591883 More... NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830 		JBrowse link
nephrotic syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Nephrotic syndrome, type 4 OMIM
ClinVar		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:8353501 PMID:16479318 PMID:22267502 PMID:24211323 PMID:25218699 More... NCBI chrNW_004936500:976,043...1,003,559
Ensembl chrNW_004936500:987,128...1,003,388 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities OMIM
ClinVar		 PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G Ppp2r5d protein phosphatase 2 regulatory subunit B'delta ISO ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities ClinVar PMID:25741868 PMID:30676711 PMID:32295525 NCBI chrNW_004936476:16,922,204...16,945,400
Ensembl chrNW_004936476:16,923,254...16,941,430 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868 NCBI chrNW_004936733:2,121,875...2,129,988 JBrowse link
nephrotic syndrome type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpro protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 6 | ClinVar Annotator: match by term: PTPRO-related condition OMIM
ClinVar		 PMID:21722858 PMID:25741868 PMID:28492532 NCBI chrNW_004936587:1,967,079...2,188,651
Ensembl chrNW_004936587:1,964,665...2,188,672 		JBrowse link
nephrotic syndrome type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: ARHGDIA-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 8 OMIM
ClinVar		 PMID:23867502 PMID:25741868 PMID:28492532 NCBI chrNW_004936594:5,383,370...5,386,618
Ensembl chrNW_004936594:5,383,380...5,386,494 		JBrowse link
nephrotic syndrome type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: COQ8B-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 9 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24270420 PMID:25741868 PMID:28204945 More... NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289 		JBrowse link
Pierson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:1,049,364...1,054,458 JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:857,932...862,976
Ensembl chrNW_004936529:859,274...860,656 		JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:872,150...884,123
Ensembl chrNW_004936529:872,837...884,879 		JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:934,641...940,858
Ensembl chrNW_004936529:936,848...940,367 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124 		JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More... NCBI chrNW_004936846:528,768...584,599
Ensembl chrNW_004936846:532,972...575,689 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:905,692...929,896
Ensembl chrNW_004936529:889,423...929,929 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:863,052...872,067
Ensembl chrNW_004936529:863,045...872,289 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome		 OMIM
ClinVar		 PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More... NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:1,054,568...1,059,575
Ensembl chrNW_004936529:1,052,090...1,059,617 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681 		JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:1,045,735...1,047,922
Ensembl chrNW_004936529:1,045,798...1,050,384 		JBrowse link
G Tns2 tensin 2 ISO OMIM:609049 MouseDO NCBI chrNW_004936512:10,376,442...10,390,421
Ensembl chrNW_004936512:10,371,684...10,393,156 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004936529:941,042...989,781
Ensembl chrNW_004936529:938,501...989,884 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia OMIM
ClinVar		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14622
    syndrome 9908
      nephrotic syndrome 168
        Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis + 2
        Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
        Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 6
        Diffuse Mesangial Sclerosis 4
        Feigenbaum Bergeron Richardson Syndrome 0
        Hutterite Cerebroosteonephrodysplasia Syndrome 0
        Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
        Nephrotic Syndrome with Ocular Anomalies 0
        Pierson syndrome 15
        Schimke immuno-osseous dysplasia 1
        familial nephrotic syndrome + 50
        lipoid nephrosis 7
Path 2
Term Annotations click to browse term
  disease 14622
    disease of anatomical entity 14327
      Urogenital Diseases 4648
        urinary system disease 2284
          kidney disease 2062
            proteinuria 362
              nephrosis 277
                nephrotic syndrome 168
                  Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis + 2
                  Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
                  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 6
                  Diffuse Mesangial Sclerosis 4
                  Feigenbaum Bergeron Richardson Syndrome 0
                  Hutterite Cerebroosteonephrodysplasia Syndrome 0
                  Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
                  Nephrotic Syndrome with Ocular Anomalies 0
                  Pierson syndrome 15
                  Schimke immuno-osseous dysplasia 1
                  familial nephrotic syndrome + 50
                  lipoid nephrosis 7
paths to the root