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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: ICD9CM:581;   NCI:C34845
For additional species annotation, visit the Alliance of Genome Resources.


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nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:11304663, PMID:9453001 RGD:10046046 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 IEP protein:increased expression:kidney (rat) RGD PMID:19147991 RGD:2307223 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Ace angiotensin I converting enzyme treatment IDA
IMP
protein:increased activity:multiple RGD PMID:2175683, PMID:15942045 RGD:11038913, RGD:1598707 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1556257, PMID:17178036, PMID:22203175 RGD:11036090 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:19194550 RGD:2317535 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Apoa1 apolipoprotein A1 IEP RGD PMID:18614621 RGD:2313652 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B IEP protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:15253708, PMID:15327385, PMID:18823551, PMID:19406966, PMID:20947785, PMID:21355056, PMID:24509478, PMID:24742477, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Cd2 Cd2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chr 2:203,666,706...203,680,073
Ensembl chr 2:203,666,637...203,680,083
JBrowse link
G Cfl1 cofilin 1 treatment IEP RGD PMID:24737737 RGD:11570418 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:30311386 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Ctsl cathepsin L IEP mRNA, protein:increased expression:glomerulus (rat) RGD PMID:15197181 RGD:1304337 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Ddc dopa decarboxylase IEP protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Ece1 endothelin converting enzyme 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Ednra endothelin receptor type A IEP mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23128049 RGD:11041725 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fat1 FAT atypical cadherin 1 ISS
ISO
ClinVar Annotator: match by term: Nephrotic syndrome MouseDO
ClinVar
PMID:25741868, PMID:26905694 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441931 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial IEP RGD PMID:18614621 RGD:2313652 NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:100,283,131...101,776,838 JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:plasma RGD PMID:12824952 RGD:1625122 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
JBrowse link
G Guca2b guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 5:138,695,591...138,697,641
Ensembl chr 5:138,695,591...138,697,641
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:11248742 RGD:12910863 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Il1b interleukin 1 beta severity IEP
ISO
protein:increased expression:serum (human)
associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)
RGD PMID:21359962, PMID:21103916, PMID:14760799 RGD:7175324, RGD:7175339, RGD:7175337 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:24812565 RGD:10402803 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22665336 RGD:7240715 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Itsn2 intersectin 2 ISS MouseDO NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IEP RGD PMID:21606114 RGD:7244390 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29534211 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Lipc lipase C, hepatic type IDA protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr 8:76,644,715...76,840,240
Ensembl chr 8:76,754,492...76,839,593
JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779
JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment IEP
ISO
ISS
mRNA,protein:decreased expression:podocyte (mouse)
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
MouseDO PMID:15942045, PMID:22493483 RGD:1598707, RGD:38599005 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin treatment IEP
ISO
ClinVar Annotator: match by term: Nephrotic range proteinuria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8589695, PMID:10742096, PMID:11729243, PMID:11805166, PMID:11854170, PMID:12649741, PMID:14570703, PMID:14675423, PMID:14978175, PMID:15253708, PMID:15327385, PMID:16898497, PMID:17371932, PMID:18216321, PMID:18443213, PMID:18823551, PMID:19371226, PMID:19406966, PMID:20798252, PMID:20947785, PMID:21171529, PMID:21355056, PMID:21415313, PMID:23242530, PMID:24089165, PMID:24227627, PMID:24500309, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25741868, PMID:25852895, PMID:26467025, PMID:28492532, PMID:29049388, PMID:29382718, PMID:32581362, PMID:15942045 RGD:1598707 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 treatment ISO RGD PMID:15833166 RGD:7174719 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO
IEP
protein:increased activity:plasma RGD PMID:15292677, PMID:8692015 RGD:7248795, RGD:7257517 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plce1 phospholipase C, epsilon 1 onset ISO DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar PMID:17086182 RGD:7257519 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:19194550 RGD:2317535 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6420562, PMID:11095018 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Serpinc1 serpin family C member 1 disease_progression IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:11304663, PMID:7532794, PMID:8979144 RGD:11035294, RGD:11038563 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Smad1 SMAD family member 1 IEP RGD PMID:17803470 RGD:1643224 NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
JBrowse link
G Soat2 sterol O-acyltransferase 2 IEP mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9152291, PMID:9152291 RGD:11035285 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868, PMID:31732614 NCBI chr  X:110,894,831...110,983,269
Ensembl chr  X:110,894,845...110,983,309
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619, PMID:8023968, PMID:10515446 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:26467025, PMID:28204945 NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Vldlr very low density lipoprotein receptor IEP protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:1658787, PMID:9398852, PMID:9499425, PMID:9529364, PMID:10094551, PMID:12050205, PMID:19484379, PMID:20442690, PMID:23515051, PMID:24161391, PMID:28492532, PMID:29668062, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 ISO protein:decreased activity:kidney (mouse) RGD PMID:11014984 RGD:7207147 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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 Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar Annotator: match by OMIM:219900
OMIM
ClinVar
PMID:9537412, PMID:9792862, PMID:10444339, PMID:10482956, PMID:10556299, PMID:10571941, PMID:10625078, PMID:10673275, PMID:11505338, PMID:11562417, PMID:11565547, PMID:11689434, PMID:11708862, PMID:11855931, PMID:12110740, PMID:12204010, PMID:12442267, PMID:12825071, PMID:15128704, PMID:15365816, PMID:18178779, PMID:18186520, PMID:18752449, PMID:19852576, PMID:19863563, PMID:21546516, PMID:21786142, PMID:22450360, PMID:22664570, PMID:23640116, PMID:24123366, PMID:24464559, PMID:25326109, PMID:25741868, PMID:26266097, PMID:27102039, PMID:27533158, PMID:27625850, PMID:27734949, PMID:27858370, PMID:28276207, PMID:28405942, PMID:28492532, PMID:28649545, PMID:28893421, PMID:29467429, PMID:30949462 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
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:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
Diffuse Mesangial Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15367484 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link
familial nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Nephrosis, congenital ClinVar PMID:14709599, PMID:14973778, PMID:14973782, PMID:20679665, PMID:22966035, PMID:24033266, PMID:25741868, PMID:25956699, PMID:26931382, PMID:27172925, PMID:27325525, PMID:28492532, PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome ClinVar PMID:18436095, PMID:19406966, PMID:25741868, PMID:26467025, PMID:28117080, PMID:28492532 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:11805166, PMID:14978175, PMID:16721582, PMID:24033266 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:1302008, PMID:1658787, PMID:9398852, PMID:9499425, PMID:9529364, PMID:10094551, PMID:10762296, PMID:12050205, PMID:19484379, PMID:20442690, PMID:23295293, PMID:23515051, PMID:24033266, PMID:24161391, PMID:24856380, PMID:25741868, PMID:25818337, PMID:27719739, PMID:28204945, PMID:28492532, PMID:29668062, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 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: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
ClinVar Annotator: match by OMIM:614748
OMIM
ClinVar
PMID:22512483, PMID:24088041, PMID:25810266, PMID:26633545 NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
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 IEP RGD PMID:24119646 RGD:10043363 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Il13 interleukin 13 IMP RGD PMID:17429054 RGD:2290347 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A IEP Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Lgals1 galectin 1 IEP protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Minimal change glomerulonephritis ClinVar PMID:32581362 NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Stat6 signal transducer and activator of transcription 6 severity
no_association
ISO DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:polymorphism:3' utr:2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
RGD PMID:12900808, PMID:15687724, PMID:19011907 RGD:7244138, RGD:7244146, RGD:7244144 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
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 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:14709599, PMID:14973778, PMID:14973782, PMID:20679665, PMID:22966035, PMID:24033266, PMID:25741868, PMID:25956699, PMID:26931382, PMID:27172925, PMID:27325525, PMID:28492532, PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar PMID:25741868 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:12464671, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15253708, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:16354237, PMID:16898497, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18443213, PMID:18823551, PMID:19145239, PMID:19406966, PMID:19876656, PMID:20507940, PMID:20947785, PMID:21171529, PMID:21355056, PMID:21415313, PMID:22565185, PMID:22578956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24227627, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25741868, PMID:26211502, PMID:26420286, PMID:26467025, PMID:26594346, PMID:26668027, PMID:28492532, PMID:28658201, PMID:29982877, PMID:30260545, PMID:32581362 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:15338398, PMID:19406966, PMID:20172850, PMID:25741868, PMID:26467025, PMID:28117080, PMID:28492532 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695, PMID:8606597, PMID:10742096, PMID:11729243, PMID:11805166, PMID:11854170, PMID:12464671, PMID:12649741, PMID:12707396, PMID:14570703, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15042551, PMID:15059485, PMID:15253708, PMID:15322893, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:16354237, PMID:16810518, PMID:16898497, PMID:17218332, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18380020, PMID:18443213, PMID:18823551, PMID:19067903, PMID:19145239, PMID:19371226, PMID:19406966, PMID:19674119, PMID:19876656, PMID:20001346, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21125408, PMID:21171529, PMID:21355056, PMID:21415313, PMID:21636722, PMID:22565185, PMID:22578956, PMID:23013956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24072147, PMID:24089165, PMID:24227627, PMID:24500309, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25720465, PMID:25741868, PMID:25852895, PMID:25903641, PMID:26211502, PMID:26420286, PMID:26467025, PMID:26467726, PMID:26594346, PMID:26668027, PMID:28204945, PMID:28385484, PMID:28492532, PMID:28658201, PMID:29049388, PMID:29382718, PMID:29982877, PMID:30260545, PMID:30655312, PMID:32581362 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:11127877, PMID:11858485, PMID:20880255, PMID:24014240, PMID:24055113, PMID:25637381, PMID:25741868, PMID:28492532, PMID:31064749 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:10691414, PMID:10835640, PMID:12011155, PMID:12187509, PMID:12483248, PMID:12629264, PMID:12743777, PMID:12853682, PMID:16885867, PMID:17204147, PMID:17466744, PMID:17525091, PMID:17568390, PMID:18286680, PMID:18414673, PMID:18617776, PMID:19299380, PMID:19453252, PMID:19565042, PMID:19888199, PMID:21303407, PMID:21375584, PMID:22427236, PMID:22749696, PMID:22995991, PMID:23741238, PMID:23951356, PMID:24033266, PMID:24522117, PMID:24844923, PMID:25010710, PMID:25206283, PMID:25741868, PMID:27535533, PMID:28492532, PMID:28546062, PMID:28556356, PMID:28609377, PMID:28984793, PMID:30311386 NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
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: Nephrotic syndrome, type 10 OMIM
ClinVar
PMID:24814193 NCBI chr10:5,433,248...5,467,840
Ensembl chr10:5,433,248...5,467,839
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
ClinVar Annotator: match by term: Nephrotic syndrome, type 11
ClinVar
OMIM
PMID:25741868, PMID:26411495, PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
JBrowse link
nephrotic syndrome type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 12
ClinVar Annotator: match by term: Nephrotic syndrome, type 12
ClinVar
OMIM
PMID:25741868, PMID:26878725 NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
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: NEPHROTIC SYNDROME, TYPE 13
ClinVar Annotator: match by term: Nephrotic syndrome, type 13
ClinVar
OMIM
PMID:26878725 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
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: Nephrotic syndrome type 14
ClinVar
OMIM
PMID:23232022, PMID:24777844, PMID:25741868, PMID:28165339, PMID:28165343, PMID:28181337, PMID:32860008 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
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: NEPHROTIC SYNDROME 15
ClinVar Annotator: match by term: Nephrotic syndrome type 15
ClinVar
OMIM
PMID:25741868, PMID:27932480 NCBI chr 4:10,995,241...12,472,423
Ensembl chr 4:10,995,234...11,610,518
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: NEPHROTIC SYNDROME 16 ClinVar
OMIM
PMID:25961457 NCBI chr 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397
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 chr10:104,137,655...104,156,576
Ensembl chr10:104,137,655...104,156,576
JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17 ClinVar
OMIM
PMID:25741868, PMID:30179222 NCBI chr10:104,118,999...104,137,258
Ensembl chr10:104,118,945...104,137,319
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:30179222 NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
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: NEPHROTIC SYNDROME, TYPE 19 OMIM
ClinVar
PMID:25741868, PMID:30179222 NCBI chr 3:79,496,239...79,562,163
Ensembl chr 3:79,498,179...79,551,128
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 chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:12464671, PMID:12707396, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15253708, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18443213, PMID:18823551, PMID:19145239, PMID:19406966, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21171529, PMID:21355056, PMID:21415313, PMID:22565185, PMID:22578956, PMID:23242530, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24227627, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25741868, PMID:26413278, PMID:26420286, PMID:26467025, PMID:26594346, PMID:26668027, PMID:28492532, PMID:28658201, PMID:29660491, PMID:30260545, PMID:32581362 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779, PMID:32581362 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by OMIM:600995
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8589695, PMID:8606597, PMID:10742096, PMID:11729243, PMID:11733557, PMID:11805166, PMID:11805168, PMID:11854170, PMID:12464671, PMID:12608558, PMID:12644922, PMID:12649741, PMID:12707396, PMID:12776285, PMID:14570703, PMID:14675423, PMID:14701729, PMID:14871423, PMID:14978175, PMID:15015071, PMID:15042551, PMID:15059485, PMID:15253708, PMID:15322893, PMID:15327385, PMID:15338398, PMID:15496146, PMID:15504144, PMID:15627790, PMID:15769810, PMID:15780077, PMID:15817495, PMID:15954915, PMID:15968559, PMID:16286890, PMID:16481888, PMID:16721582, PMID:16810518, PMID:16898497, PMID:16900088, PMID:16968734, PMID:17109732, PMID:17216259, PMID:17218332, PMID:17371932, PMID:17635752, PMID:17699384, PMID:17899208, PMID:17942774, PMID:17942957, PMID:18216321, PMID:18392643, PMID:18443213, PMID:18481113, PMID:18499321, PMID:18543005, PMID:18596732, PMID:18683072, PMID:18726620, PMID:18823551, PMID:19067903, PMID:19145239, PMID:19268410, PMID:19371226, PMID:19406966, PMID:19520069, PMID:19674119, PMID:19812541, PMID:20001346, PMID:20025681, PMID:20333530, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21125408, PMID:21171529, PMID:21355056, PMID:21415313, PMID:21636722, PMID:21722858, PMID:22228437, PMID:22565185, PMID:22578956, PMID:23013956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:23800802, PMID:24033266, PMID:24072147, PMID:24089165, PMID:24227627, PMID:24500309, PMID:24509478, PMID:24511133, PMID:24519673, PMID:24715228, PMID:24742477, PMID:24856380, PMID:24969201, PMID:25349199, PMID:25525159, PMID:25599733, PMID:25741868, PMID:25852895, PMID:25903641, PMID:26138234, PMID:26211502, PMID:26248470, PMID:26413278, PMID:26420286, PMID:26467025, PMID:26467726, PMID:26594346, PMID:26668027, PMID:26820844, PMID:27766458, PMID:27885584, PMID:28117080, PMID:28204945, PMID:28385484, PMID:28492532, PMID:28529802, PMID:28658201, PMID:28712774, PMID:29049388, PMID:29382718, PMID:29660491, PMID:30241959, PMID:30260545, PMID:30655312, PMID:31027891, PMID:31738409, PMID:32129207, PMID:32581362 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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 chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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 chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008, PMID:1327525, PMID:1338906, PMID:1655284, PMID:6307071, PMID:7795587, PMID:8295405, PMID:9090524, PMID:9529364, PMID:9607189, PMID:10470095, PMID:10505700, PMID:11182928, PMID:12970737, PMID:15150775, PMID:15509792, PMID:17496156, PMID:17541636, PMID:17853480, PMID:23497137, PMID:23715653, PMID:23935527, PMID:25501161, PMID:25818337, PMID:26069768, PMID:26467025, PMID:27013732, PMID:27899157, PMID:28204945, PMID:28492532, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
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 OMIM
ClinVar
PMID:25741868, PMID:30661770 NCBI chr  X:110,894,831...110,983,269
Ensembl chr  X:110,894,845...110,983,309
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: NEPHROTIC SYNDROME, TYPE 21 ClinVar
OMIM
PMID:29058690 NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21 ClinVar PMID:29058690 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
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 PMID:18975016, PMID:20591883, PMID:23595123, PMID:24130771, PMID:24247120, PMID:25741868, PMID:26668027 NCBI chr 1:257,469,538...257,498,844
Ensembl chr 1:257,469,538...257,498,844
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3
ClinVar Annotator: match by OMIM:610725
OMIM
ClinVar
PMID:17086182, PMID:18975016, PMID:20507940, PMID:20591883, PMID:22865593, PMID:23595123, PMID:24130771, PMID:24247120, PMID:24500309, PMID:24902943, PMID:25060053, PMID:25741868, PMID:26467025, PMID:26668027, PMID:27766458, PMID:28492532, PMID:31319225 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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 OMIM
ClinVar
PMID:1302008, PMID:1327525, PMID:1338906, PMID:1655284, PMID:1658787, PMID:6307071, PMID:7795587, PMID:8295405, PMID:9090524, PMID:9108089, PMID:9398852, PMID:9499425, PMID:9529364, PMID:9607189, PMID:10094551, PMID:10470095, PMID:10505700, PMID:10603123, PMID:10762296, PMID:11182928, PMID:12050205, PMID:12970737, PMID:15150775, PMID:15266301, PMID:15483024, PMID:15509792, PMID:17496156, PMID:17541636, PMID:17853480, PMID:18559874, PMID:18591546, PMID:19171881, PMID:19221039, PMID:19484379, PMID:19494353, PMID:19536888, PMID:20368469, PMID:20413658, PMID:20435628, PMID:20442690, PMID:23295293, PMID:23497137, PMID:23515051, PMID:23715653, PMID:23935527, PMID:24033266, PMID:24161391, PMID:24728327, PMID:24856380, PMID:25110071, PMID:25145932, PMID:25349199, PMID:25383892, PMID:25501161, PMID:25741868, PMID:25818337, PMID:25932436, PMID:26069768, PMID:26358501, PMID:26467025, PMID:26725263, PMID:27013732, PMID:27719739, PMID:27899157, PMID:28204945, PMID:28492532, PMID:29668062, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614199
OMIM
ClinVar
PMID:7885444, PMID:14136829, PMID:16097004, PMID:16912710, PMID:18594871, PMID:19251977, PMID:20556798, PMID:21236492, PMID:21763483, PMID:23349334, PMID:23595123, PMID:25741868, PMID:26239645, PMID:26248470, PMID:26467025, PMID:26467726, PMID:27858192, PMID:28492532 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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 chr 6:127,500,014...127,508,470
Ensembl chr 6:127,500,016...127,508,452
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 This custom term has been created by RGD curators. OMIM
ClinVar
PMID:21722858 NCBI chr 4:171,250,766...171,461,571
Ensembl chr 4:171,250,818...171,461,677
JBrowse link
nephrotic syndrome type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 7
ClinVar Annotator: match by OMIM:615008
OMIM
ClinVar
PMID:23274426, PMID:23542698, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
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 OMIM:615244 OMIM
ClinVar
PMID:23867502 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
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 OMIM:615573 OMIM
ClinVar
PMID:24270420 NCBI chr 1:84,043,487...84,067,066
Ensembl chr 1:84,044,551...84,067,066
JBrowse link
Pierson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by OMIM:609049
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2206901, PMID:14136829, PMID:15367484, PMID:15372515, PMID:16097004, PMID:16912710, PMID:17256789, PMID:18594871, PMID:20507940, PMID:20556798, PMID:21763483, PMID:23349334, PMID:23595123, PMID:24033266, PMID:25741868, PMID:26108971, PMID:26239645, PMID:26248470, PMID:26467025, PMID:26467726, PMID:27858192, PMID:28492532, PMID:28780565, PMID:29127259, PMID:32860008, PMID:15367484, PMID:15367484 RGD:7207425, RGD:7207425 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:143,702,623...143,720,995
Ensembl chr 7:143,707,237...143,720,595
JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
ClinVar Annotator: match by OMIM:242900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11799392, PMID:15523612, PMID:15880370, PMID:16237566, PMID:16840568, PMID:17089404, PMID:18805831, PMID:18974355, PMID:19127206, PMID:19793864, PMID:20301550, PMID:21914180, PMID:22998683, PMID:23671665, PMID:24589093, PMID:25741868, PMID:25748404, PMID:26089390, PMID:26195148, PMID:26499378, PMID:28492532, PMID:28780565, PMID:28796785, PMID:29802247, PMID:30026777, PMID:30311386, PMID:30784191, PMID:11799392 RGD:1599053 NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      nephrotic syndrome 119
        Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
        Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
        Diffuse Mesangial Sclerosis 2
        Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 0
        Feigenbaum Bergeron Richardson Syndrome 0
        Hutterite Cerebroosteonephrodysplasia Syndrome 0
        Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
        Nephrotic Syndrome with Ocular Anomalies 0
        Pierson syndrome 2
        Schimke immuno-osseous dysplasia 1
        familial nephrotic syndrome + 44
        lipoid nephrosis 7
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        urinary system disease 2075
          kidney disease 1863
            proteinuria 507
              nephrosis 239
                nephrotic syndrome 119
                  Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
                  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
                  Diffuse Mesangial Sclerosis 2
                  Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 0
                  Feigenbaum Bergeron Richardson Syndrome 0
                  Hutterite Cerebroosteonephrodysplasia Syndrome 0
                  Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
                  Nephrotic Syndrome with Ocular Anomalies 0
                  Pierson syndrome 2
                  Schimke immuno-osseous dysplasia 1
                  familial nephrotic syndrome + 44
                  lipoid nephrosis 7
paths to the root

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