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
Accession: DOID:1184
browse the term
Definition: A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. (DO)
Synonyms: exact_synonym: Nephrotic Syndromes
narrow_synonym: NEPHROTIC RANGE PROTEINURIA
primary_id: MESH:D009404
xref: EFO:0004255 ; ICD9CM:581 ; NCI:C34845
For additional species annotation, visit the
Alliance of Genome Resources .
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A2m
alpha-2-macroglobulin
IEP ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11304663 PMID:9453001
RGD:10046046
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Acat1
acetyl-CoA acetyltransferase 1
IEP
protein:increased expression:kidney (rat)
RGD
PMID:19147991
RGD:2307223
NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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Ace
angiotensin I converting enzyme
treatment
IDA IMP
protein:increased activity:multiple
RGD
PMID:2175683 PMID:15942045
RGD:11038913 , RGD:1598707
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Actn4
actinin alpha 4
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:28492532
NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Agxt
alanine--glyoxylate aminotransferase
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:10453743 PMID:15110324 PMID:15327387 PMID:15464418 PMID:17495019 PMID:19479957 PMID:20301460 PMID:25629080 PMID:25741868 PMID:27135212 PMID:28492532 PMID:28619084 PMID:29127259 PMID:30655312 More...
NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1556257 PMID:17178036 PMID:22203175
RGD:11036090
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alms1
ALMS1, centrosome and basal body associated protein
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:28492532
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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Alox5
arachidonate 5-lipoxygenase
IMP
RGD
PMID:19194550
RGD:2317535
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Anln
anillin, actin binding protein
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:28492532
NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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Apoa1
apolipoprotein A1
IEP
RGD
PMID:18614621
RGD:2313652
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob
apolipoprotein B
IEP
protein:increased expression:serum (rat)
RGD
PMID:11135070
RGD:11353965
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoc2
apolipoprotein C2
ISO
protein:increased expression:serum
RGD
PMID:8366982
RGD:2313970
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Apoc3
apolipoprotein C3
ISO
protein:increased expression:serum
RGD
PMID:8366982
RGD:2313970
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoe
apolipoprotein E
ISO
protein:increased expression:serum (human)
RGD
PMID:2381443
RGD:12904707
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arhgap24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823
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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 chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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Atic
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:29127259
NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
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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 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:20798252 PMID:20947785 PMID:21355056 PMID:22763815 PMID:23515051 PMID:23645318 PMID:24509478 PMID:24742477 PMID:25349199 PMID:25741868 PMID:26413278 PMID:26467025 PMID:27193387 PMID:28492532 PMID:28780565 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:30260545 PMID:30280213 PMID:30655312 PMID:32581362 PMID:33102883 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:22989431
RGD:7205481
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Cd2
Cd2 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2465858
NCBI chr 2:188,710,895...188,724,044
Ensembl chr 2:188,710,900...188,724,026
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Cdk20
cyclin-dependent kinase 20
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:29127259
NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826
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Cfi
complement factor I
disease_progression
ISO
RGD
PMID:9745775
RGD:108019049
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Cfl1
cofilin 1
treatment
IEP
RGD
PMID:24737737
RGD:11570418
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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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 PMID:25741868 PMID:25907713 PMID:28492532 More...
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Cog1
component of oligomeric golgi complex 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:19008299 PMID:25741868 PMID:29127259
NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col4a1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Col4a2
collagen type IV alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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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 chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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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 PMID:28492532 PMID:33532864 More...
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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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 PMID:19344236 PMID:20378821 PMID:23720012 PMID:24130771 PMID:25741868 PMID:27627812 PMID:28492532 PMID:28542346 PMID:29127259 PMID:32405592 More...
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Coq2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:25349199 PMID:25741868 PMID:27493029 PMID:28492532 PMID:29127259 PMID:29637272 PMID:29869118 PMID:30295827 More...
NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
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Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:33532864
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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Cpb2
carboxypeptidase B2
ISO
protein:increased activity,increased expression:plasma
RGD
PMID:12439147
RGD:7243124
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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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 chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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Ctsl
cathepsin L
IEP
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:15197181
RGD:1304337
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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Ddc
dopa decarboxylase
IEP
protein:decreased activity:renal cortex (rat)
RGD
PMID:16204272
RGD:5129145
NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
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Dgat1
diacylglycerol O-acyltransferase 1
IEP
mRNA,protein:increased expression:liver:
RGD
PMID:15200432
RGD:10400845
NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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Dgke
diacylglycerol kinase epsilon
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:23274426 PMID:25349199 PMID:25741868 PMID:29127259
NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100
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Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:28492532 PMID:29127259
NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
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Ece1
endothelin converting enzyme 1
IEP
mRNA,protein:increased expression:kidney:
RGD
PMID:12972712
RGD:7244242
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34783119
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Ednra
endothelin receptor type A
IEP
mRNA:increased expression:Glomerulus
RGD
PMID:12972712
RGD:7244242
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Epo
erythropoietin
treatment
ISO
RGD
PMID:23128049
RGD:11041725
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F3
coagulation factor III, tissue factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17513194
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fat1
FAT atypical cadherin 1
ISS ISO
ClinVar Annotator: match by term: Nephrotic syndrome
MouseDO ClinVar
PMID:25741868 PMID:26905694 PMID:28492532
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21441931
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:29127259
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:29127259
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
protein: reduced expression: :
RGD
PMID:12185480
RGD:7242688
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
IEP
RGD
PMID:18614621
RGD:2313652
NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
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Gpc5
glypican 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21441931
NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282
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Gpx1
glutathione peroxidase 1
IEP
mRNA:increased expression:kidney
RGD
PMID:20685819
RGD:7205671
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gpx3
glutathione peroxidase 3
ISO IEP
protein:decreased expression:plasma mRNA:decreased expression:kidney
RGD
PMID:12824952 PMID:20685819 PMID:20685819
RGD:1625122 , RGD:7205671 , RGD:7205671
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gpx4
glutathione peroxidase 4
ISO
mRNA:decreased expression:kidney
RGD
PMID:20685819
RGD:7205671
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Guca2b
guanylate cyclase activator 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15780094
NCBI chr 5:133,246,891...133,248,941
Ensembl chr 5:133,246,909...133,248,966
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15199296
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
RGD
PMID:11248742
RGD:12910863
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human)
RGD
PMID:14758530
RGD:6907374
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19242727
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
treatment
IEP
RGD
PMID:24812565
RGD:10402803
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il5
interleukin 5
ISO
RGD
PMID:22665336
RGD:7240715
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:29127259
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Itga3
integrin subunit alpha 3
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:22512483 PMID:29127259
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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Itgb4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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Itsn1
intersectin 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:29773874
NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
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Itsn2
intersectin 2
ISS
MouseDO
NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
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Jak2
Janus kinase 2
ISO
RGD
PMID:17823504
RGD:6483037
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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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 5:113,401,491...113,465,526
Ensembl chr 5:113,402,468...113,465,555
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Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
IEP
RGD
PMID:21606114
RGD:7244390
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
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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 PMID:22584503 PMID:25741868 PMID:28492532 PMID:29127259 PMID:30963316 More...
NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:23999528 PMID:25741868 PMID:26553438 PMID:28492532 PMID:29534211 PMID:31321674 More...
NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:2206901 PMID:9536098 PMID:15367484 PMID:17576681 PMID:18672223 PMID:25741868 PMID:28492532 PMID:29127259 PMID:30295827 PMID:33749661 More...
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Lipc
lipase C, hepatic type
IDA
protein, mRNA:reduced expression:liver (rat)
RGD
PMID:9186885
RGD:2308789
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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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 PMID:28492532 PMID:29127259 PMID:32356190 PMID:32791958 PMID:33532864 More...
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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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 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Myo1e
myosin IE
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:29127259
NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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Nck1
NCK adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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Nck2
NCK adaptor protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
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Nfkbia
NFKB inhibitor alpha
exacerbates
ISO
protein:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:17441336
RGD:127285019
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Noc3l
NOC3-like DNA replication regulator
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
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Nos1
nitric oxide synthase 1
IEP
protein:decreased expression:kidney
RGD
PMID:12853118
RGD:1642133
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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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 RGD
PMID:15942045 PMID:22493483
RGD:1598707 , RGD:38599005
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Nphs2
NPHS2 stomatin family member, podocin
treatment
IEP ISO ISS
ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 PMID:12464671 PMID:12649741 PMID:12707396 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15322893 PMID:15327385 PMID:15954915 PMID:16481888 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18443213 PMID:18499321 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21722858 PMID:22228437 PMID:22578956 PMID:22763815 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24089165 PMID:24227627 PMID:24500309 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25599733 PMID:25741868 PMID:25852895 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:27193387 PMID:28385484 PMID:28492532 PMID:28529802 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29869118 PMID:29982877 PMID:30241959 PMID:30260545 PMID:30280213 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33102883 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 PMID:15942045 More...
RGD:1598707
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment
ISO
RGD
PMID:15833166
RGD:7174719
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Nup93
nucleoporin 93
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:30655312 PMID:33532864 More...
NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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Osgep
O-sialoglycoprotein endopeptidase
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:11519896 PMID:15966048 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 PMID:31564459 PMID:33333793 More...
NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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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 PMID:25349199 PMID:25741868 PMID:28492532 PMID:29127259 More...
NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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Pla2g7
phospholipase A2 group VII
ISO IEP
protein:increased activity:plasma
RGD
PMID:15292677 PMID:8692015
RGD:7248795 , RGD:7257517
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plce1
phospholipase C, epsilon 1
onset
ISO
DNA:mutations: : ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:29127259 PMID:17086182
RGD:7257519
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Ppargc1a
PPARG coactivator 1 alpha
IEP
protein:decreased expression:kidney cortex (rat)
RGD
PMID:22874759
RGD:7242024
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:19194550
RGD:2317535
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ren
renin
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6420562 PMID:11095018
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Runx2
RUNX family transcription factor 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Scnn1a
sodium channel epithelial 1 subunit alpha
IAGP
RGD
PMID:15075188
RGD:1624161
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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Scnn1b
sodium channel epithelial 1 subunit beta
IAGP
RGD
PMID:15075188
RGD:1624161
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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Serpinc1
serpin family C member 1
disease_progression
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11304663 PMID:7532794 PMID:8979144
RGD:11035294 , RGD:11038563
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17513194
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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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 PMID:29127259 PMID:30517686 PMID:31130284 PMID:32233035 PMID:32860008 PMID:33074640 More...
NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084
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Slc35f1
solute carrier family 35, member F1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:29127259
NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611
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Smad1
SMAD family member 1
IEP
RGD
PMID:17803470
RGD:1643224
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:18974355 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25428399 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Soat2
sterol O-acyltransferase 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:11967026
RGD:730139
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9152291 PMID:9152291
RGD:11035285
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Synpo
synaptopodin
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:33615071
NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126
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Tbc1d8b
TBC1 domain family member 8B
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:31732614
NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133
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Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17178036
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tfpi
tissue factor pathway inhibitor
ISO
protein:increased expression:plasma
RGD
PMID:22319062
RGD:11341665
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619 PMID:8023968 PMID:10515446
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
protein:decreased expression:serum
RGD
PMID:22989431
RGD:7205481
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tns2
tensin 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:29773874
NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888
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Tprkb
Tp53rk binding protein
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:28805828 PMID:29127259
NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
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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 PMID:26467025 PMID:26892346 PMID:28117080 PMID:28204945 PMID:28492532 PMID:28921387 PMID:29127259 PMID:30295827 PMID:30655312 PMID:31937884 PMID:33884742 More...
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:32173348 PMID:33532864 More...
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Vldlr
very low density lipoprotein receptor
IEP
protein:decreased expression:heart, skeletal muscle (rat)
RGD
PMID:9186864
RGD:2324668
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Wdr73
WD repeat domain 73
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:16217710 PMID:25741868 PMID:25873735 PMID:26123727 PMID:27001912 PMID:29127259 More...
NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
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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 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10670748 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17853480 PMID:19484379 PMID:20442690 PMID:22815844 PMID:22908070 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24161391 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27899157 PMID:28204945 PMID:28492532 PMID:29668062 PMID:30655312 PMID:32352694 PMID:32581362 PMID:34622098 PMID:35211794 PMID:36980135 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
ClinVar OMIM
PMID:32554502
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Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
ClinVar OMIM
PMID:32554502
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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Mmp1
matrix metallopeptidase 1
ISO
protein:decreased activity:kidney (mouse)
RGD
PMID:11014984
RGD:7207147
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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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 chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
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Ctns
cystinosin, lysosomal cystine transporter
ISO
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:10909858 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12644911 PMID:12825071 PMID:15128704 PMID:15365816 PMID:16199547 PMID:17576681 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:20061170 PMID:20301574 PMID:20352457 PMID:21305353 PMID:21546516 PMID:21786142 PMID:22232659 PMID:22450360 PMID:22528245 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25640679 PMID:25741868 PMID:26266097 PMID:26489029 PMID:26565940 PMID:26655004 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28122645 PMID:28238446 PMID:28276207 PMID:28405942 PMID:28465352 PMID:28492532 PMID:28629674 PMID:28649545 PMID:28793998 PMID:28893421 PMID:28983406 PMID:29421779 PMID:29467429 PMID:30214781 PMID:30554218 PMID:30849045 PMID:30949462 PMID:30957593 PMID:31074291 PMID:31672123 PMID:33532864 PMID:33661986 PMID:33822926 PMID:35513889 PMID:35571017 PMID:35738466 More...
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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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 PMID:10909858 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:25741868 PMID:27102039 PMID:27734949 PMID:28492532 More...
NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980
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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 chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363
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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 PMID:10909858 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:25741868 PMID:27102039 PMID:27734949 PMID:28492532 More...
NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
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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 chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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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 chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Lamb2
laminin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse mesangial sclerosis
CTD ClinVar
PMID:15367484 PMID:25741868 PMID:28492532
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Plce1
phospholipase C, epsilon 1
ISO
DNA:mutations: :
RGD
PMID:18065803
RGD:7257520
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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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 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16439601 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25349199 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36980135 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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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:14978175 PMID:15253708 PMID:15327385 PMID:17899208 PMID:18216321 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21171529 PMID:21355056 PMID:22578956 PMID:23242530 PMID:23645318 PMID:24033266 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25741868 PMID:28492532 PMID:30295827 PMID:30655312 PMID:32581362 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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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 PMID:28476686 PMID:28492532 PMID:31216994 More...
NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Hereditary nephrotic syndrome
ClinVar
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 PMID:12464671 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18443213 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24033266 PMID:24089165 PMID:24227627 PMID:24500309 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25599733 PMID:25741868 PMID:25852895 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:27885584 PMID:28385484 PMID:28492532 PMID:28529802 PMID:28712774 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29869118 PMID:29982877 PMID:30241959 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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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: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
OMIM ClinVar
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 PMID:28492532 PMID:29127259 More...
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
treatment
IEP
RGD
PMID:24119646
RGD:10043363
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Il13
interleukin 13
IMP
RGD
PMID:17429054
RGD:2290347
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
IEP
Protein:increased expression:plasma (rat)
RGD
PMID:22772331
RGD:9068937
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Lgals1
galectin 1
IEP
protein:decreased expression:glomerulus, podocytes (rat)
RGD
PMID:19079321
RGD:2316526
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Lipoid nephrosis
ClinVar
PMID:23687361 PMID:32581362
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
disease_progression
ISO
RGD
PMID:17890747
RGD:7174718
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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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 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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Abcc6
ATP binding cassette subfamily C member 6
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:12384774 PMID:25741868 PMID:28492532
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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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 PMID:22966035 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332 PMID:31994750 PMID:32573669 More...
NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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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 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17699384 PMID:18823551 PMID:19145239 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:23349334 PMID:23515051 PMID:23645318 PMID:24227627 PMID:24509478 PMID:25349199 PMID:25720465 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30348286 PMID:32604935 PMID:33102883 PMID:33305316 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:9892814
RGD:7248412
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Kirrel2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition
ClinVar
PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 PMID:12039988 PMID:15338398 PMID:15906409 PMID:18436095 PMID:18503012 PMID:19406966 PMID:20172850 PMID:20507940 PMID:22584503 PMID:23949594 PMID:25741868 PMID:26467025 PMID:27594755 PMID:28117080 PMID:28476686 PMID:28492532 PMID:29127259 PMID:30963316 PMID:31216994 PMID:33893808 More...
NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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Nphs1
NPHS1 adhesion molecule, nephrin
ISO
DNA:mutations:multiple (human)
RGD
PMID:11317351
RGD:737766
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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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 PMID:12464671 PMID:12644922 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15264208 PMID:15322893 PMID:15496146 PMID:15769810 PMID:15817495 PMID:15954915 PMID:16286890 PMID:16291839 PMID:16354237 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17109732 PMID:17699384 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18683072 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19371226 PMID:19406966 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:22578956 PMID:23013956 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24072147 PMID:24227627 PMID:24509478 PMID:24742477 PMID:25349199 PMID:25525159 PMID:25720465 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:27885584 PMID:28385484 PMID:28492532 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30348286 PMID:30609409 PMID:30655312 PMID:32129207 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33305316 PMID:33532864 More...
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Plce1
phospholipase C, epsilon 1
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Pros1
protein S
ISO
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1
ClinVar
PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 PMID:31064749 More...
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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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 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:34828289 More...
NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
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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 PMID:28492532 PMID:29127259 PMID:33532864 More...
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:22099579 PMID:25741868 PMID:27719739
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Emp2
epithelial membrane protein 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 10
OMIM ClinVar
PMID:24814193 PMID:25741868 PMID:28106320 PMID:28492532
NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 11
OMIM ClinVar
PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222
NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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Bmp7
bone morphogenetic protein 7
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 12
ClinVar
PMID:25741868
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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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 chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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Nup205
nucleoporin 205
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 13
OMIM ClinVar
PMID:25741868 PMID:26878725 PMID:28492532
NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
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Sgpl1
sphingosine-1-phosphate lyase 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome 14
OMIM ClinVar
PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28181337 PMID:28492532 PMID:29127259 PMID:30517686 PMID:31130284 PMID:32233035 PMID:32860008 PMID:33074640 PMID:35904228 PMID:35972040 PMID:36873630 More...
NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084
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Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome 15
OMIM ClinVar
PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 PMID:30986657 More...
NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240
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Kank2
KN motif and ankyrin repeat domains 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome 16
OMIM ClinVar
PMID:25741868 PMID:25961457 PMID:28492532
NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
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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 chr10:100,825,427...100,843,422
Ensembl chr10:100,825,426...100,844,462
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Nup85
nucleoporin 85
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 17
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30179222
NCBI chr10:100,806,482...100,825,029
Ensembl chr10:100,806,437...100,825,043
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Nup133
nucleoporin 133
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 18
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30179222
NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239
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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 chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565
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Anxa5
annexin A5
ISO
protein:increased expression:urine
RGD
PMID:17999093
RGD:7242031
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Avil
advillin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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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 PMID:12707396 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15015071 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:18216321 PMID:18443213 PMID:18709391 PMID:18823551 PMID:19145239 PMID:19371226 PMID:19406966 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:22763815 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24227627 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25525159 PMID:25720465 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26594346 PMID:26668027 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31308032 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33532864 PMID:36167728 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:32581362
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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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 PMID:30212996 PMID:32581362 More...
NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 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:14978175 PMID:15015071 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15264208 PMID:15322893 PMID:15327385 PMID:15496146 PMID:15504144 PMID:15769810 PMID:15780077 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16199547 PMID:16286890 PMID:16291839 PMID:16354237 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18380020 PMID:18443213 PMID:18499321 PMID:18596732 PMID:18683072 PMID:18709391 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20001346 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:22763815 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:23913389 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24511133 PMID:24596097 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25060053 PMID:25349199 PMID:25525159 PMID:25573908 PMID:25599733 PMID:25720465 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:26668027 PMID:26820844 PMID:27885584 PMID:28117080 PMID:28204945 PMID:28385484 PMID:28476686 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29869118 PMID:29982877 PMID:30013592 PMID:30241959 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30609409 PMID:30655312 PMID:30721404 PMID:31027891 PMID:31308032 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33428103 PMID:33532864 PMID:33980730 PMID:34031707 PMID:34405919 PMID:34853150 PMID:36167728 More...
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
mRNA:alternative form:blood, mononuclear cell
RGD
PMID:20419394
RGD:7174729
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Nup205
nucleoporin 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
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Nup93
nucleoporin 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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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 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Pla2g7
phospholipase A2 group VII
disease_progression
ISO
RGD
PMID:9853251
RGD:7248793
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plce1
phospholipase C, epsilon 1
ISO
DNA:mutations: :
RGD
PMID:20591883
RGD:7257521
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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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 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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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 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15509792 PMID:16439601 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:30655312 PMID:32352694 PMID:32581362 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36980135 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Xpo5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Tbc1d8b
TBC1 domain family member 8B
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 20
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30661770 PMID:31732614
NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133
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Avil
advillin
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 21
OMIM ClinVar
PMID:25741868 PMID:29058690
NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 21
ClinVar
PMID:25741868 PMID:29058690
NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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Nos1ap
nitric oxide synthase 1 adaptor protein
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 22
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:33523862
NCBI chr13:82,547,799...82,820,999
Ensembl chr13:82,530,577...82,820,949
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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 2:172,521,644...172,615,057
Ensembl chr 2:172,525,245...172,615,299
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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 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497
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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:25741868 PMID:28492532 PMID:29534211 PMID:29706646 PMID:29764427 PMID:32439764 PMID:35419533 More...
NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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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 PMID:24247120 PMID:25741868 PMID:26668027 PMID:28492532 More...
NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
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Plce1
phospholipase C, epsilon 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition
OMIM ClinVar
PMID:17086182 PMID:18709391 PMID:18975016 PMID:20507940 PMID:20591883 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:28780565 PMID:31319225 More...
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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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 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8810912 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10603123 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11278460 PMID:11322369 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16932893 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18516627 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20562648 PMID:21125408 PMID:21499692 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 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:25623218 PMID:25720465 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:26882358 PMID:27013732 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30721404 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32493750 PMID:32581362 PMID:32604935 PMID:32719394 PMID:32891756 PMID:33226606 PMID:34386660 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36980135 PMID:38054408 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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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 PMID:16097004 PMID:16199547 PMID:16912710 PMID:17256789 PMID:17576681 PMID:18594871 PMID:18672223 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 PMID:28780565 PMID:29127259 PMID:30295827 More...
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Ppp2r5d
protein phosphatase 2, regulatory subunit B', delta
ISO
ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities
ClinVar
PMID:25741868 PMID:30676711 PMID:32295525
NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
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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 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
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Ptpro
protein tyrosine phosphatase, receptor type, O
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 6
OMIM ClinVar
PMID:21722858 PMID:25741868 PMID:28492532
NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771
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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 PMID:25443527 PMID:25741868 PMID:25854283 PMID:28056875 PMID:28492532 PMID:28496993 PMID:28526779 PMID:28720077 PMID:29127259 PMID:29590070 PMID:37466676 More...
NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 8
OMIM ClinVar
PMID:23867502 PMID:25741868 PMID:28492532
NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 9
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:24270420 PMID:25741868 PMID:28204945 PMID:28337616 PMID:28405841 PMID:28454995 PMID:28492532 PMID:29194833 PMID:29382012 PMID:30076350 PMID:31130284 PMID:31328266 PMID:31937884 PMID:32543055 PMID:32604935 PMID:32859164 PMID:32957916 PMID:33084234 PMID:33413146 PMID:33532864 PMID:34172776 PMID:36177613 PMID:36532926 More...
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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Amt
aminomethyltransferase
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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C8h3orf62
similar to human chromosome 3 open reading frame 62
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895
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C8h3orf84
similar to human chromosome 3 open reading frame 84
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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Ccdc71
coiled-coil domain containing 71
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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Dag1
dystroglycan 1
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 PMID:28492532 PMID:28862265 PMID:33372952 More...
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Gpx1
glutathione peroxidase 1
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Iho1
interactor of HORMAD1 1
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
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Klhdc8b
kelch domain containing 8B
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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Lamb2
laminin subunit beta 2
ISO ISS
ClinVar Annotator: match by term: Pierson syndrome ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome OMIM:609049 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 PMID:16097004 PMID:16199547 PMID:16898484 PMID:16912710 PMID:17256789 PMID:17576681 PMID:18594871 PMID:18672223 PMID:19251977 PMID:20507940 PMID:20556798 PMID:21236492 PMID:21763483 PMID:21910237 PMID:23349334 PMID:23595123 PMID:24033266 PMID:25349199 PMID:25741868 PMID:26108971 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27004562 PMID:27858192 PMID:28188379 PMID:28476686 PMID:28492532 PMID:28780565 PMID:29127259 PMID:30013592 PMID:30295827 PMID:31130284 PMID:31831576 PMID:31959872 PMID:32295525 PMID:32860008 PMID:33554690 PMID:33749661 PMID:15367484 PMID:15367484 More...
RGD:7207425 , RGD:7207425
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Nicn1
nicolin 1, tubulin polyglutamylase complex subunit
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Tcta
T-cell leukemia translocation altered
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
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Tns2
tensin 2
ISS
OMIM:609049
MouseDO
NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888
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Usp4
ubiquitin specific peptidase 4
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,035,402...109,079,382
Ensembl chr 8:109,036,099...109,080,427
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia OMIM:242900 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 PMID:15884045 PMID:16199547 PMID:16237566 PMID:16840568 PMID:17089404 PMID:17576681 PMID:18805831 PMID:18974355 PMID:19127206 PMID:19793864 PMID:20179009 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23359635 PMID:23671665 PMID:24197801 PMID:24589093 PMID:25349199 PMID:25428399 PMID:25640679 PMID:25741868 PMID:25748404 PMID:25943327 PMID:26089390 PMID:26195148 PMID:26499378 PMID:26633542 PMID:27577878 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28796785 PMID:28844315 PMID:29127259 PMID:29282041 PMID:29802247 PMID:30026777 PMID:30295827 PMID:30586318 PMID:30635151 PMID:30687093 PMID:30784191 PMID:31039288 PMID:31275356 PMID:32393263 PMID:32499645 PMID:32604935 PMID:33203071 PMID:33532864 PMID:11799392 More...
RGD:1599053
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19057
syndrome
11177
nephrotic syndrome
172
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +
2
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
0
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
6
Diffuse Mesangial Sclerosis
4
Feigenbaum Bergeron Richardson Syndrome
0
Hutterite Cerebroosteonephrodysplasia Syndrome
0
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome
1
Nephrotic Syndrome with Ocular Anomalies
0
Pierson syndrome
15
Schimke immuno-osseous dysplasia
1
familial nephrotic syndrome +
52
lipoid nephrosis
7
Path 2
disease
19057
disease of anatomical entity
18393
Urogenital Diseases
5269
urinary system disease
2830
kidney disease
2580
proteinuria
586
nephrosis
290
nephrotic syndrome
172
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +
2
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
0
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
6
Diffuse Mesangial Sclerosis
4
Feigenbaum Bergeron Richardson Syndrome
0
Hutterite Cerebroosteonephrodysplasia Syndrome
0
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome
1
Nephrotic Syndrome with Ocular Anomalies
0
Pierson syndrome
15
Schimke immuno-osseous dysplasia
1
familial nephrotic syndrome +
52
lipoid nephrosis
7