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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.


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 chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787 		JBrowse link
G ACE angiotensin I converting enzyme treatment ISO protein:increased activity:multiple RGD PMID:2175683 PMID:15942045 RGD:11038913 RGD:1598707 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10453743 PMID:15110324 PMID:15327387 PMID:15464418 PMID:17495019 More... NCBI chr2B:128,125,289...128,137,091
Ensembl chr2B:246,928,784...246,939,837 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1556257 PMID:17178036 PMID:22203175 RGD:11036090 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:19194550 RGD:2317535 NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016 		JBrowse link
G ANLN anillin, actin binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137 		JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:18614621 RGD:2313652 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G APOB apolipoprotein B ISO protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G APOC2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr19:41,892,954...41,896,461 JBrowse link
G APOC3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460 		JBrowse link
G APOE apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861 		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 chr17:76,273,196...76,276,942
Ensembl chr17:81,975,340...81,978,447 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360 		JBrowse link
G AVIL advillin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847 		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 chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432 		JBrowse link
G CD2 CD2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chr 1:85,752,522...85,767,323
Ensembl chr 1:120,749,918...120,764,659 		JBrowse link
G CDK20 cyclin dependent kinase 20 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29127259 NCBI chr 9:59,114,640...59,146,438
Ensembl chr 9:87,186,151...87,216,537 		JBrowse link
G CFI complement factor I disease_progression ISO RGD PMID:9745775 RGD:108019049 NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581 		JBrowse link
G CFL1 cofilin 1 treatment ISO RGD PMID:24737737 RGD:11570418 NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806 		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 chr  X:42,137,523...42,299,716
Ensembl chr  X:49,854,165...50,006,363 		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 chr17:67,120,989...67,136,480
Ensembl chr17:72,576,526...72,591,953 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530 		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 chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021 		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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892 		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 chr  X:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095 		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 chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014 		JBrowse link
G COQ8B coenzyme Q8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33532864 NCBI chr19:37,735,725...37,761,160
Ensembl chr19:46,242,576...46,267,503 		JBrowse link
G CPB2 carboxypeptidase B2 ISO protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chr13:26,926,788...26,979,767 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 chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253 		JBrowse link
G CTSL cathepsin L ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:15197181 RGD:1304337 NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303 		JBrowse link
G DDC dopa decarboxylase ISO protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710 		JBrowse link
G DDX53 DEAD-box helicase 53 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:15,600,945...15,603,137
Ensembl chr  X:22,976,707...22,978,602 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chr 8:141,079,948...141,090,619
Ensembl chr 8:144,064,587...144,080,155 		JBrowse link
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23274426 PMID:23542698 PMID:25349199 PMID:25741868 PMID:28492532 More... NCBI chr17:50,912,079...50,946,655
Ensembl chr17:55,773,896...55,802,485 		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 chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909 		JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34783119 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545 		JBrowse link
G EDNRA endothelin receptor type A ISO mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497 		JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:23128049 RGD:11041725 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26905694 PMID:28492532 NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441931 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G FN1 fibronectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chr17:4,980,083...4,983,219 JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO RGD PMID:18614621 RGD:2313652 NCBI chr10:108,747,370...108,781,270
Ensembl chr10:112,186,744...112,246,549 		JBrowse link
G GPC5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr13:72,588,968...74,051,961
Ensembl chr13:91,755,623...93,205,610 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO mRNA:increased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		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 chr 5:146,447,939...146,456,476 JBrowse link
G GPX4 glutathione peroxidase 4 ISO mRNA:decreased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chr19:20,904...23,828 JBrowse link
G GUCA2B guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 1:41,452,722...41,455,192
Ensembl chr 1:42,832,196...42,835,425 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO RGD PMID:11248742 RGD:12910863 NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442 		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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		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 chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984 		JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:24812565 RGD:10402803 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581 		JBrowse link
G IL5 interleukin 5 ISO RGD PMID:22665336 RGD:7240715 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675 		JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29127259 NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154 		JBrowse link
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:22512483 PMID:29127259 NCBI chr17:44,145,974...44,181,343
Ensembl chr17:49,019,892...49,055,245 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401 		JBrowse link
G ITSN1 intersectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29773874 NCBI chr21:20,009,385...20,266,835
Ensembl chr21:33,457,081...33,625,248 		JBrowse link
G ITSN2 intersectin 2 ISO MouseDO NCBI chr2A:24,199,600...24,354,314
Ensembl chr2A:24,297,373...24,419,593 		JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		JBrowse link
G KANK4 KN motif and ankyrin repeat domains 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:25961457 PMID:28492532 PMID:29127259 NCBI chr 1:61,489,350...61,578,025
Ensembl chr 1:63,307,644...63,350,546 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO RGD PMID:21606114 RGD:7244390 NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860 		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 chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467 		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 chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765 		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 chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074 		JBrowse link
G LIPC lipase C, hepatic type ISO protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005 		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 chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420 		JBrowse link
G LOC100979269 alpha-2-macroglobulin ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9453001 PMID:11304663 RGD:10046046 NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979 		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 chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090 		JBrowse link
G MXRA5 matrix remodeling associated 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 Ensembl chr  X:3,248,134...3,285,917 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 chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618 		JBrowse link
G MYO1E myosin IE ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29127259 NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722 		JBrowse link
G NCK1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 3:133,902,463...133,990,414
Ensembl chr 3:141,427,870...141,451,444 		JBrowse link
G NCK2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr2A:95,939,197...96,089,163
Ensembl chr2A:106,898,547...106,976,363 		JBrowse link
G NFKBIA NFKB inhibitor alpha exacerbates ISO protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:17441336 RGD:127285019 NCBI chr14:16,155,331...16,158,588 JBrowse link
G NOC3L NOC3 like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr10:91,052,341...91,101,068
Ensembl chr10:94,579,840...94,609,405 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005 		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 chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471 		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 chr 1:155,038,753...155,064,332 JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 treatment ISO RGD PMID:15833166 RGD:7174719 NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269 		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 chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561 		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 chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		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 chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055 		JBrowse link
G PLA2G7 phospholipase A2 group VII ISO protein:increased activity:plasma RGD PMID:8692015 PMID:15292677 RGD:7248795 RGD:7257517 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212 		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 chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		JBrowse link
G PODXL podocalyxin like ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29244787 PMID:30523047 NCBI chr 7:123,467,140...123,523,503
Ensembl chr 7:135,984,592...135,992,815 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19194550 RGD:2317535 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G REN renin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO RGD PMID:15075188 RGD:1624161 NCBI chr12:6,475,723...6,506,443 JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO RGD PMID:15075188 RGD:1624161 NCBI chr16:14,728,834...14,809,072
Ensembl chr16:23,555,388...23,634,873 		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 chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369 		JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450 		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 chr10:67,286,349...67,351,574
Ensembl chr10:69,812,092...69,876,438 		JBrowse link
G SLC35F1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17803470 RGD:1643224 NCBI chr 4:137,822,269...137,899,700
Ensembl chr 4:149,481,836...149,558,135 		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 chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		JBrowse link
G SOAT2 sterol O-acyltransferase 2 ISO mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chr12:35,632,018...35,653,227
Ensembl chr12:36,413,954...36,434,074 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9152291 RGD:11035285 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G SYNPO synaptopodin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33615071 NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595 		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:95,903,692...95,976,672
Ensembl chr  X:106,281,157...106,354,054 		JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476 		JBrowse link
G TFPI tissue factor pathway inhibitor ISO protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 PMID:8023968 PMID:10515446 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
G TNS2 tensin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29773874 NCBI chr12:35,692,148...35,712,685
Ensembl chr12:36,473,106...36,488,471 		JBrowse link
G TPRKB TP53RK binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28805828 PMID:29127259 NCBI chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271 		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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980 		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 chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		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 ClinVar
OMIM		 PMID:32554502 NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475 		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 ClinVar
OMIM		 PMID:32554502 NCBI chr15:12,850,708...12,852,171
Ensembl chr15:31,684,833...31,686,305 		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 chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279 		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 chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253 		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 chr17:3,657,764...3,686,791
Ensembl chr17:3,654,237...3,683,421 		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 chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342 		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 chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579 		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 chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787 		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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074 		JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		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 chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251 		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 chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... NCBI chr 1:155,038,753...155,064,332 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:24220332 PMID:25741868 More... NCBI chr17:44,145,974...44,181,343
Ensembl chr17:49,019,892...49,055,245 		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 chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G IL13 interleukin 13 ISO RGD PMID:17429054 RGD:2290347 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548 		JBrowse link
G IL17A interleukin 17A ISO Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074 		JBrowse link
G LGALS1 galectin 1 ISO protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Lipoid nephrosis ClinVar PMID:23687361 PMID:32581362 NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 no_association
severity		 ISO DNA:polymorphism:3' utr:2964G>A (human)
DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)		 RGD PMID:12900808 PMID:15687724 PMID:19011907 RGD:7244138 RGD:7244144 RGD:7244146 Ensembl chr12:32,068,679...32,085,099 JBrowse link
nephrotic syndrome type 1 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: Finnish congenital nephrotic syndrome ClinVar PMID:2296603 PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 More... NCBI chr16:3,995,711...4,009,476
Ensembl chr16:5,158,979...5,173,189 		JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr17:76,273,196...76,276,942
Ensembl chr17:81,975,340...81,978,447 		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 chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357 		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:9536098 PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 More... NCBI chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467 		JBrowse link
G LOC100980531 eotaxin ISO RGD PMID:9892814 RGD:7248412 NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345
Ensembl chr17:22,806,076...22,808,345 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471 		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 chr 1:155,038,753...155,064,332 JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		JBrowse link
G PROS1 protein S ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:10790208 PMID:11127877 PMID:11858485 PMID:18322254 PMID:20880255 More... NCBI chr 3:90,934,641...91,039,059
Ensembl chr 3:97,615,734...97,718,756 		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 chr 5:143,273,137...143,287,745 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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		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 chr16:9,465,589...9,517,593
Ensembl chr16:10,694,425...10,744,744 		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 chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642 		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 chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021 		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 chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561 		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 chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983 		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 chr10:67,286,349...67,351,574
Ensembl chr10:69,812,092...69,876,438 		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:28106320 More... NCBI chr 7:69,943,704...71,395,176
Ensembl chr 7:83,758,512...84,760,872 		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:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359 		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 chr17:69,185,045...69,208,766
Ensembl chr17:74,737,164...74,762,039 		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 chr17:69,152,452...69,182,688
Ensembl chr17:74,708,654...74,735,628 		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 chr 1:204,985,690...205,053,072
Ensembl chr 1:210,017,649...210,084,746 		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 chr11:47,732,678...47,805,906
Ensembl chr11:48,281,972...48,352,998 		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 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972 		JBrowse link
G AVIL advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847 		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 chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021 		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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892 		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:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095 		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 chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855 		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 chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357 		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 chr 1:155,038,753...155,064,332 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 chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269 		JBrowse link
G NUP205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983 		JBrowse link
G NUP93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561 		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 chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		JBrowse link
G PLA2G7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212 		JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		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 chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		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 chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
G XPO5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029 		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 chr  X:95,903,692...95,976,672
Ensembl chr  X:106,281,157...106,354,054 		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 chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847 		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 chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595 		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 chr 1:133,363,880...133,465,717
Ensembl chr 1:137,233,701...137,255,927 		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 chr 6:39,374,565...39,488,843
Ensembl chr 6:40,684,695...40,799,395 		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 OMIM
ClinVar		 PMID:24130771 PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 More... NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765 		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 chr10:91,052,341...91,101,068
Ensembl chr10:94,579,840...94,609,405 		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:9536098 PMID:17086182 PMID:17576681 PMID:18065803 PMID:18709391 More... NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		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 OMIM
ClinVar		 PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:25741868 PMID:26576547 PMID:28492532 PMID:30676711 PMID:32295525 NCBI chr 6:42,576,759...42,604,609
Ensembl chr 6:43,871,915...43,899,183 		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 chr14:74,914,680...74,927,325
Ensembl chr14:94,248,362...94,257,835 		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:28106320 PMID:28492532 NCBI chr12:15,329,314...15,594,787
Ensembl chr12:15,725,917...15,990,532 		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: AHUS, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 ClinVar
OMIM		 PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 More... NCBI chr17:50,912,079...50,946,655
Ensembl chr17:55,773,896...55,802,485 		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 chr17:76,273,196...76,276,942
Ensembl chr17:81,975,340...81,978,447 		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:16199547 PMID:17576681 PMID:24270420 PMID:25741868 More... NCBI chr19:37,735,725...37,761,160
Ensembl chr19:46,242,576...46,267,503 		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 chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9463314 More... NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G C2H3orf62 chromosome 2 C3orf62 homolog ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,191,640...49,199,806
Ensembl chr 3:50,273,460...50,279,995 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9463314 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886 		JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,085,870...49,089,723 JBrowse link
G CIMIP7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,100,962...49,115,215
Ensembl chr 3:50,180,907...50,195,215 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		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 chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,122,120...49,181,228
Ensembl chr 3:50,239,250...50,259,890 		JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,094,203...49,099,818
Ensembl chr 3:50,174,393...50,179,759 		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 chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074 		JBrowse link
G LOC100967331 ubiquitin carboxyl-terminal hydrolase 4 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,199,328...49,263,861
Ensembl chr 3:50,279,642...50,343,903 		JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,350,753...49,357,161
Ensembl chr 3:50,595,232...50,601,612 		JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,340,010...49,344,288 JBrowse link
G TNS2 tensin 2 ISO OMIM:609049 MouseDO NCBI chr12:35,692,148...35,712,685
Ensembl chr12:36,473,106...36,488,471 		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 chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    syndrome 10731
      nephrotic syndrome 173
        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 17
        Schimke immuno-osseous dysplasia 1
        familial nephrotic syndrome + 49
        lipoid nephrosis 7
Path 2
Term Annotations click to browse term
  disease 15835
    disease of anatomical entity 15491
      Urogenital Diseases 4921
        urinary system disease 2408
          kidney disease 2169
            proteinuria 383
              nephrosis 290
                nephrotic syndrome 173
                  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 17
                  Schimke immuno-osseous dysplasia 1
                  familial nephrotic syndrome + 49
                  lipoid nephrosis 7
paths to the root