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: nephrosis
Accession: DOID:2527
browse the term
Definition: Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.
Synonyms: exact_synonym: nephroses
primary_id: MESH:D009401
alt_id: RDO:0001054
For additional species annotation, visit the
Alliance of Genome Resources .
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Ace
angiotensin I converting enzyme
treatment
IEP IMP
protein:increased activity:multiple (rats) Adriamycin Nephrosis
RGD
PMID:8303709 , PMID:8665777
RGD:8157608 , RGD:12879388
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2046802
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3301049
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Angpt1
angiopoietin 1
IEP
mRNA, protein:decreased expression:glomerulus
RGD
PMID:16626513
RGD:1626164
NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
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Angpt2
angiopoietin 2
IDA IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:18929866 , PMID:18929864
RGD:2314177 , RGD:2314178
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
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Cat
catalase
ISO
mRNA: decreased expression: glomerulus
RGD
PMID:20685819
RGD:7205671
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl1
C-C motif chemokine ligand 1
IEP
RGD
PMID:10867541
RGD:4891422
NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
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Ccl7
C-C motif chemokine ligand 7
IEP
RGD
PMID:10867541
RGD:4891422
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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Cd36
CD36 molecule
IEP
RGD
PMID:19147991
RGD:2307223
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Cd40lg
CD40 ligand
ISO
RGD
PMID:19889873
RGD:7248422
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cd59
CD59 molecule
IMP
RGD
PMID:15843577
RGD:1600482
NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
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Cfh
complement factor H
IEP
protein:altered expression:kidney:
RGD
PMID:22815489
RGD:7364901
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:19590241
RGD:4891946
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
RGD
PMID:19590241
RGD:4891946
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
IEP
mRNA:decreased expression
RGD
PMID:16574160
RGD:1599698
NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
IDA
RGD
PMID:1328752
RGD:2307321
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Cyp3a18
cytochrome P450, family 3, subfamily a, polypeptide 18
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18725544
NCBI chr12:10,636,294...10,684,273
Ensembl chr12:10,636,275...10,684,278
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18725544
NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
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Ddit3
DNA-damage inducible transcript 3
IEP ISO
Protein:increased expression:glomerulus, podocyte CTD Direct Evidence: marker/mechanism
CTD
PMID:16400006 , PMID:16400006
RGD:1599729
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
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Des
desmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16418842
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
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Edn1
endothelin 1
IEP ISO
mRNA:increased expression:glomerulus (rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:7756592 , PMID:9175058
RGD:4144855
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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Ednrb
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7756592
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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F2
coagulation factor II
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18541230 , PMID:18541230
RGD:6893577
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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Gata3
GATA binding protein 3
ISO
HDR Syndrome/Barakat Syndrome, OMIM:146255
RGD
PMID:10935639
RGD:1358706
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:22046528
RGD:7240570
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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Havcr1
hepatitis A virus cellular receptor 1
IEP
mRNA,protein:increased expression:kidney:
RGD
PMID:17213874
RGD:7246891
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
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Hpse
heparanase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16899518
NCBI chr14:10,534,358...10,576,686
Ensembl chr14:10,534,423...10,575,224
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Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12845231
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Il1b
interleukin 1 beta
IDA
RGD
PMID:22582804
RGD:7175170
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12845231
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Lamb2
laminin subunit beta 2
ISS
MouseDO
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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Lrp2
LDL receptor related protein 2
IEP
mRNA:decreased expression:glomerulus
RGD
PMID:10919857
RGD:1641827
NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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Nes
nestin
IEP ISO
mRNA, protein:increased expression:glomerulus CTD Direct Evidence: marker/mechanism
CTD
PMID:16418842 , PMID:17637254
RGD:1642072
NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969
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Nphs2
NPHS2 stomatin family member, podocin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15684566
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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Nppa
natriuretic peptide A
IEP
protein:increased expression:plasma
RGD
PMID:8289999
RGD:7247315
NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
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Nppb
natriuretic peptide B
IEP
protein:increased expression:plasma
RGD
PMID:8289999
RGD:7247315
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Pdpn
podoplanin
IEP
mRNA, protein:decreased expression:glomerulus
RGD
PMID:9327748
RGD:632934
NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
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Ptpru
protein tyrosine phosphatase, receptor type, U
IEP
mRNA, protein:decreased expression:glomerulus
RGD
PMID:17457373
RGD:1642654
NCBI chr 5:149,922,374...149,996,352
Ensembl chr 5:149,922,352...149,996,334
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2046802 PMID:6358456
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2273594
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Srebf2
sterol regulatory element binding transcription factor 2
IEP
protein:altered localization:nucleus
RGD
PMID:19147991
RGD:2307223
NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
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Star
steroidogenic acute regulatory protein
IEP
mRNA:decreased expression:ovary
RGD
PMID:16574160
RGD:1599698
NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
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Vim
vimentin
IEP ISO
mRNA,protein:increased expression:podocyte CTD Direct Evidence: marker/mechanism
CTD
PMID:16418842 , PMID:16418842
RGD:6480447
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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Mmp1
matrix metallopeptidase 1
ISO
protein:decreased activity:kidney (mouse)
RGD
PMID:11014984
RGD:7207147
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Ctns
cystinosin, lysosomal cystine transporter
ISO
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar Annotator: match by OMIM:219900
OMIM ClinVar
PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12825071 PMID:15128704 PMID:15365816 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:21546516 PMID:21786142 PMID:22450360 PMID:22664570 PMID:23640116 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26565940 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28276207 PMID:28405942 PMID:28492532 PMID:28649545 PMID:28893421 PMID:29467429 PMID:30949462
NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
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Shpk
sedoheptulokinase
ISO
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar
PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949
NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
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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:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949
NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
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Lamb2
laminin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15367484
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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Plce1
phospholipase C, epsilon 1
ISO
DNA:mutations: :
RGD
PMID:18065803
RGD:7257520
NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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Alg1
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ISO
ClinVar Annotator: match by term: Nephrosis, congenital
ClinVar
PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332
NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
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Kirrel2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: Congenital nephrotic syndrome
ClinVar
PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28492532
NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Hereditary nephrotic syndrome
ClinVar
PMID:11805166 PMID:14978175 PMID:16721582 PMID:24033266
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Hereditary nephrotic syndrome
ClinVar
PMID:1302008 PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:10762296 PMID:12050205 PMID:17694336 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:23295293 PMID:23515051 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25741868 PMID:25818337 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Lage3
L antigen family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr X:156,355,376...156,356,799
Ensembl chr X:156,355,376...156,356,799
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Osgep
O-sialoglycoprotein endopeptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
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Tp53rk
TP53 regulating kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
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Tprkb
Tp53rk binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941 Ensembl chr 4:117,780,533...117,785,941
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Wdr4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:30079490
NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
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Wdr73
WD repeat domain 73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25466283
NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
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Zfp592
zinc finger protein 592
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20531441
NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
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Eng
endoglin
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar
PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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Wdr73
WD repeat domain 73
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
OMIM ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:30315938
NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
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Zfp592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5
ClinVar
PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727
NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
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Lage3
L antigen family, member 3
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
ClinVar OMIM
PMID:12693786 PMID:28805828
NCBI chr X:156,355,376...156,356,799
Ensembl chr X:156,355,376...156,356,799
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Osgep
O-sialoglycoprotein endopeptidase
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3 ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
ClinVar OMIM
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28805828
NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
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Tp53rk
TP53 regulating kinase
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4
ClinVar OMIM
PMID:28805828
NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
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Tprkb
Tp53rk binding protein
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5
ClinVar OMIM
PMID:28805828
NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941 Ensembl chr 4:117,780,533...117,785,941
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Wdr4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6
OMIM ClinVar
PMID:25741868 PMID:26416026 PMID:28617965 PMID:29597095 PMID:30079490
NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7
OMIM ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222
NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
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Nup133
nucleoporin 133
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8
OMIM ClinVar
PMID:11793129 PMID:30427554
NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
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Acbd7
acyl-CoA binding domain containing 7
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,904,549...78,913,372
Ensembl chr17:78,904,873...78,910,671
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Akr1c1
aldo-keto reductase family 1, member C1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
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Akr1c2
aldo-keto reductase family 1, member C2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
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Akr1c3
aldo-keto reductase family 1, member C3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
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Akr1e2
aldo-keto reductase family 1, member E2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,365,437...69,379,944
Ensembl chr17:69,365,453...69,379,947
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Ankrd16
ankyrin repeat domain 16
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,384,883...70,398,089
Ensembl chr17:70,386,707...70,398,769
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Arl5b
ADP-ribosylation factor like GTPase 5B
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:82,065,893...82,092,693
Ensembl chr17:82,065,937...82,091,362
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Asb13
ankyrin repeat and SOCS box-containing 13
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,215,401...70,234,103
Ensembl chr17:70,215,401...70,234,103
G
Atp5f1c
ATP synthase F1 subunit gamma
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:72,209,321...72,231,562
Ensembl chr17:72,209,373...72,394,271
G
Bend7
BEN domain containing 7
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,448,430...77,527,888
Ensembl chr17:77,448,430...77,527,894
G
C1ql3
complement C1q like 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,314,186...80,320,681
Ensembl chr17:80,314,186...80,320,681
G
Cacnb2
calcium voltage-gated channel auxiliary subunit beta 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
G
Calml3
calmodulin-like 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,070,458...70,073,697
Ensembl chr17:70,072,156...70,073,530
G
Calml5
calmodulin-like 5
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,044,956...70,045,886
G
Camk1d
calcium/calmodulin-dependent protein kinase ID
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,532,611...76,938,956
Ensembl chr17:76,532,611...76,938,956
G
Ccdc3
coiled-coil domain containing 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,991,722...77,093,515
Ensembl chr17:76,995,043...77,093,308
G
Cdc123
cell division cycle 123
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,410,629...76,454,275
Ensembl chr17:76,410,585...76,454,282
G
Cdnf
cerebral dopamine neurotrophic factor
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,721,230...78,735,324
Ensembl chr17:78,719,111...78,735,324
G
Celf2
CUGBP, Elav-like family member 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:75,259,269...75,660,154
Ensembl chr17:75,352,389...75,654,951
G
Cubn
cubilin
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
G
Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
G
Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
G
Echdc3
enoyl CoA hydratase domain containing 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,002,304...76,022,813
Ensembl chr17:76,002,275...76,022,813
G
Fam107b
family with sequence similarity 107, member B
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,489,667...78,689,933
Ensembl chr17:78,489,668...78,561,613
G
Fam171a1
family with sequence similarity 171, member A1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:79,030,150...79,149,480
Ensembl chr17:79,031,423...79,085,076
G
Fbh1
F-box DNA helicase 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,399,093...70,437,151
Ensembl chr17:70,399,049...70,437,144
G
Frmd4a
FERM domain containing 4A
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,642,302...77,918,210
G
Gata3
GATA binding protein 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome ClinVar Annotator: match by term: Barakat syndrome ClinVar Annotator: match by OMIM:146255 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null
OMIM ClinVar CTD
PMID:10935639 PMID:11389161 PMID:15705923 PMID:16912130 PMID:17309062 PMID:18621058 PMID:19248180 PMID:19253381 PMID:20006695 PMID:21834031 PMID:23142663 PMID:23435732 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30143558
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
G
Gdi2
GDP dissociation inhibitor 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
G
Hacd1
3-hydroxyacyl-CoA dehydratase 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:81,173,238...81,196,012
Ensembl chr17:81,173,713...81,187,739
G
Il15ra
interleukin 15 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,451,861...70,481,838
Ensembl chr17:70,451,411...70,481,750
G
Il2ra
interleukin 2 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
G
Itga8
integrin subunit alpha 8
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
G
Itih2
inter-alpha-trypsin inhibitor heavy chain 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:72,160,734...72,197,248
Ensembl chr17:72,160,735...72,195,509
G
Itih5
inter-alpha-trypsin inhibitor heavy chain 5
ISO
ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome
ClinVar
PMID:25741868
NCBI chr17:72,035,799...72,055,809 NCBI chr17:72,108,870...72,137,419
G
Kin
Kin17 DNA and RNA binding protein
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:72,198,882...72,216,780
Ensembl chr17:72,198,866...72,209,279
G
Mcm10
minichromosome maintenance 10 replication initiation factor
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,224,218...77,245,486
Ensembl chr17:77,224,112...77,246,478
G
Meig1
meiosis/spermiogenesis associated 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,813,656...78,829,411
Ensembl chr17:78,817,529...78,829,411
G
Mindy3
MINDY lysine 48 deubiquitinase 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:79,720,534...79,798,470
Ensembl chr17:79,720,535...79,798,435
G
Net1
neuroepithelial cell transforming 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,991,786...70,020,977
Ensembl chr17:70,010,794...70,020,982
G
Nmt2
N-myristoyltransferase 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,919,235...78,966,013
Ensembl chr17:78,921,793...78,962,476
G
Nsun6
NOP2/Sun RNA methyltransferase 6
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
G
Nudt5
nudix hydrolase 5
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
G
Olah
oleoyl-ACP hydrolase
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,878,673...78,903,919
Ensembl chr17:78,879,058...78,903,967
G
Optn
optineurin
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
G
Pfkfb3
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,632,778...70,713,736
Ensembl chr17:70,684,134...70,713,726
G
Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
G
Prkcq
protein kinase C, theta
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
G
Proser2
proline and serine rich 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,079,641...76,140,428
Ensembl chr17:76,079,720...76,137,697
G
Prpf18
pre-mRNA processing factor 18
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,601,914...77,632,507
Ensembl chr17:77,601,877...77,663,980
G
Pter
phosphotriesterase related
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,250,444...80,311,987
Ensembl chr17:80,250,521...80,311,981
G
Rbm17
RNA binding motif protein 17
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,586,345...70,603,289
Ensembl chr17:70,586,394...70,603,267
G
Rpp38
ribonuclease P/MRP subunit p38
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,915,450...78,919,144
Ensembl chr17:78,915,604...78,919,143
G
Rsu1
Ras suppressor protein 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,388,477...80,577,338
Ensembl chr17:80,389,157...80,577,027
G
Sec61a2
SEC61 translocon subunit alpha 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,358,947...76,385,860
Ensembl chr17:76,358,944...76,385,103
G
Sephs1
selenophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,312,562...77,340,934
Ensembl chr17:77,312,562...77,340,934
G
Sfmbt2
Scm-like with four mbt domains 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:71,719,012...71,904,303
Ensembl chr17:71,723,620...71,897,972
G
Slc39a12
solute carrier family 39 member 12
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:81,455,731...81,541,742
Ensembl chr17:81,455,955...81,541,759
G
St8sia6
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,960,785...81,002,830
Ensembl chr17:80,960,785...81,002,838
G
Stam
signal transducing adaptor molecule
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:81,209,795...81,256,111
Ensembl chr17:81,209,867...81,255,808
G
Suv39h2
suppressor of variegation 3-9 homolog 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,762,897...78,782,016
Ensembl chr17:78,762,991...78,782,016
G
Taf3
TATA-box binding protein associated factor 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:72,240,785...72,393,448
Ensembl chr17:72,209,373...72,394,271
G
Tasor2
transcription activation suppressor family member 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,245,672...70,299,056
Ensembl chr17:70,262,363...70,297,751
G
Trdmt1
tRNA aspartic acid methyltransferase 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,824,652...80,859,585
Ensembl chr17:80,826,846...80,860,195
G
Tubal3
tubulin, alpha-like 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,974,272...69,982,957
Ensembl chr17:69,974,272...69,982,957
G
Ucma
upper zone of growth plate and cartilage matrix associated
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,252,099...77,262,301
Ensembl chr17:77,252,100...77,261,731
G
Ucn3
urocortin 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,959,879...69,966,532
Ensembl chr17:69,960,160...69,966,099
G
Upf2
UPF2, regulator of nonsense mediated mRNA decay
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,176,379...76,287,246
Ensembl chr17:76,175,643...76,287,186
G
Usp6nl
USP6 N-terminal like
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:75,759,428...75,887,108
Ensembl chr17:75,761,469...75,886,523
G
Vim
vimentin
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
G
Itga3
integrin subunit alpha 3
ISO
ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital ClinVar Annotator: match by OMIM:614748
OMIM ClinVar
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545
NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
treatment
IEP
RGD
PMID:24119646
RGD:10043363
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
G
Il13
interleukin 13
IMP
RGD
PMID:17429054
RGD:2290347
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
G
Il17a
interleukin 17A
IEP
Protein:increased expression:plasma (rat)
RGD
PMID:22772331
RGD:9068937
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
G
Lgals1
galectin 1
IEP
protein:decreased expression:glomerulus, podocytes (rat)
RGD
PMID:19079321
RGD:2316526
NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289
G
Lmx1b
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Minimal change glomerulonephritis
ClinVar
PMID:23687361 PMID:32581362
NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
disease_progression
ISO
RGD
PMID:17890747
RGD:7174718
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
G
Stat6
signal transducer and activator of transcription 6
severity no_association
ISO
DNA:polymorphism:3' utr:g.2964G>A (human) DNA:polymorphism:3' utr:2964G>A (human) DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
RGD
PMID:12900808 , PMID:15687724 , PMID:19011907
RGD:7244138 , RGD:7244146 , RGD:7244144
NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
G
A2m
alpha-2-macroglobulin
IEP ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:11304663 , PMID:9453001
RGD:10046046
NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
G
Acat1
acetyl-CoA acetyltransferase 1
IEP
protein:increased expression:kidney (rat)
RGD
PMID:19147991
RGD:2307223
NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
G
Ace
angiotensin I converting enzyme
treatment
IDA IMP
protein:increased activity:multiple
RGD
PMID:2175683 , PMID:15942045
RGD:11038913 , RGD:1598707
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1556257 PMID:17178036 , PMID:22203175
RGD:11036090
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
G
Alox5
arachidonate 5-lipoxygenase
IMP
RGD
PMID:19194550
RGD:2317535
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
G
Apoa1
apolipoprotein A1
IEP
RGD
PMID:18614621
RGD:2313652
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
G
Apob
apolipoprotein B
IEP
protein:increased expression:serum (rat)
RGD
PMID:11135070
RGD:11353965
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
G
Apoc2
apolipoprotein C2
ISO
protein:increased expression:serum
RGD
PMID:8366982
RGD:2313970
NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
G
Apoc3
apolipoprotein C3
ISO
protein:increased expression:serum
RGD
PMID:8366982
RGD:2313970
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
G
Apoe
apolipoprotein E
ISO
protein:increased expression:serum (human)
RGD
PMID:2381443
RGD:12904707
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
Arhgdia
Rho GDP dissociation inhibitor alpha
ISS
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
MouseDO
NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
G
Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Nephrotic range proteinuria
ClinVar
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr13:73,950,422...74,025,237
G
Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:22989431
RGD:7205481
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
G
Cd2
Cd2 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2465858
NCBI chr 2:203,666,706...203,680,073
Ensembl chr 2:203,666,637...203,680,083
G
Cfl1
cofilin 1
treatment
IEP
RGD
PMID:24737737
RGD:11570418
NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
G
Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
G
Col4a1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Col4a2
collagen type IV alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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Cpb2
carboxypeptidase B2
ISO
protein:increased activity,increased expression:plasma
RGD
PMID:12439147
RGD:7243124
NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
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Ctsl
cathepsin L
IEP
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:15197181
RGD:1304337
NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
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Ddc
dopa decarboxylase
IEP
protein:decreased activity:renal cortex (rat)
RGD
PMID:16204272
RGD:5129145
NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
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Dgat1
diacylglycerol O-acyltransferase 1
IEP
mRNA,protein:increased expression:liver:
RGD
PMID:15200432
RGD:10400845
NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
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Ece1
endothelin converting enzyme 1
IEP
mRNA,protein:increased expression:kidney:
RGD
PMID:12972712
RGD:7244242
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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Ednra
endothelin receptor type A
IEP
mRNA:increased expression:Glomerulus
RGD
PMID:12972712
RGD:7244242
NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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Epo
erythropoietin
treatment
ISO
RGD
PMID:23128049
RGD:11041725
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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F3
coagulation factor III, tissue factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17513194
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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Fat1
FAT atypical cadherin 1
ISS ISO
ClinVar Annotator: match by term: Nephrotic syndrome
MouseDO ClinVar
PMID:25741868 PMID:26905694
NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21441931
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
protein: reduced expression: :
RGD
PMID:12185480
RGD:7242688
NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
IEP
RGD
PMID:18614621
RGD:2313652
NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
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Gpc5
glypican 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21441931
NCBI chr15:100,283,131...101,776,838
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Gpx3
glutathione peroxidase 3
ISO
protein:decreased expression:plasma
RGD
PMID:12824952
RGD:1625122
NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
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Guca2b
guanylate cyclase activator 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15780094
NCBI chr 5:138,695,591...138,697,641
Ensembl chr 5:138,695,591...138,697,641
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15199296
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
RGD
PMID:11248742
RGD:12910863
NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
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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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19242727
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il4
interleukin 4
treatment
IEP
RGD
PMID:24812565
RGD:10402803
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il5
interleukin 5
ISO
RGD
PMID:22665336
RGD:7240715
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Itsn2
intersectin 2
ISS
MouseDO
NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337
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Jak2
Janus kinase 2
ISO
RGD
PMID:17823504
RGD:6483037
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
IEP
RGD
PMID:21606114
RGD:7244390
NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
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Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:29534211
NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:28492532
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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Lipc
lipase C, hepatic type
IDA
protein, mRNA:reduced expression:liver (rat)
RGD
PMID:9186885
RGD:2308789
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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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 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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Myo1e
myosin IE
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 8:76,644,715...76,840,240
Ensembl chr 8:76,754,492...76,839,593
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Nck1
NCK adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779
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Nck2
NCK adaptor protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284
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Nos1
nitric oxide synthase 1
IEP
protein:decreased expression:kidney
RGD
PMID:12853118
RGD:1642133
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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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
PMID:15942045 , PMID:22493483
RGD:1598707 , RGD:38599005
NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
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Nphs2
NPHS2 stomatin family member, podocin
treatment
IEP ISO
ClinVar Annotator: match by term: Nephrotic range proteinuria CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 PMID:12649741 PMID:14570703 PMID:14675423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:16898497 PMID:17371932 PMID:17942957 PMID:18216321 PMID:18443213 PMID:18823551 PMID:19371226 PMID:19406966 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:23242530 PMID:24089165 PMID:24227627 PMID:24500309 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25741868 PMID:25852895 PMID:26467025 PMID:28492532 PMID:28780565 PMID:29049388 PMID:29382718 PMID:29982877 PMID:32129207 PMID:32581362 , PMID:15942045
RGD:1598707
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment
ISO
RGD
PMID:15833166
RGD:7174719
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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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 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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Plce1
phospholipase C, epsilon 1
onset
ISO
DNA:mutations: : ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:17086182
RGD:7257519
NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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Ppargc1a
PPARG coactivator 1 alpha
IEP
protein:decreased expression:kidney cortex (rat)
RGD
PMID:22874759
RGD:7242024
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:19194550
RGD:2317535
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6420562 PMID:11095018
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Scnn1a
sodium channel epithelial 1 subunit alpha
IAGP
RGD
PMID:15075188
RGD:1624161
NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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Scnn1b
sodium channel epithelial 1 subunit beta
IAGP
RGD
PMID:15075188
RGD:1624161
NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
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Serpinc1
serpin family C member 1
disease_progression
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11304663 , PMID:7532794 , PMID:8979144
RGD:11035294 , RGD:11038563
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17513194
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Smad1
SMAD family member 1
IEP
RGD
PMID:17803470
RGD:1643224
NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
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Soat2
sterol O-acyltransferase 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:11967026
RGD:730139
NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9152291 , PMID:9152291
RGD:11035285
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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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:110,894,831...110,983,269
Ensembl chr X:110,894,845...110,983,309
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Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17178036
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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Tfpi
tissue factor pathway inhibitor
ISO
protein:increased expression:plasma
RGD
PMID:22319062
RGD:11341665
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
protein:decreased expression:serum
RGD
PMID:22989431
RGD:7205481
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:26467025 PMID:28204945
NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
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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 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Nephrotic range proteinuria
ClinVar
PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:12050205 PMID:19484379 PMID:20442690 PMID:23515051 PMID:24161391 PMID:28492532 PMID:29668062 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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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
NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
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Alg1
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332
NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar
PMID:25741868
NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
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Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Idiopathic nephrotic syndrome
ClinVar
PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 PMID:14675423 PMID:14978175 PMID:15015071 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17371932 PMID:17899208 PMID:18216321 PMID:18443213 PMID:18823551 PMID:19145239 PMID:19406966 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24227627 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26594346 PMID:26668027 PMID:28492532 PMID:28658201 PMID:29660491 PMID:29982877 PMID:30260545 PMID:30450462 PMID:32581362
NCBI chr13:73,950,422...74,025,237
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Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:9892814
RGD:7248412
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
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Kirrel2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:15338398 PMID:19406966 PMID:20172850 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28492532
NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
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Nphs1
NPHS1 adhesion molecule, nephrin
ISO
DNA:mutations:multiple (human)
RGD
PMID:11317351
RGD:737766
NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 PMID:11733557 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14871423 PMID:14978175 PMID:15015071 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15322893 PMID:15327385 PMID:15338398 PMID:15496146 PMID:15504144 PMID:15627790 PMID:15769810 PMID:15780077 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16354237 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:16968734 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17635752 PMID:17699384 PMID:17899208 PMID:17942774 PMID:17942957 PMID:18216321 PMID:18380020 PMID:18392643 PMID:18443213 PMID:18481113 PMID:18499321 PMID:18543005 PMID:18596732 PMID:18683072 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20001346 PMID:20025681 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24511133 PMID:24519673 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25720465 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26248470 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:26668027 PMID:26820844 PMID:27766458 PMID:27885584 PMID:28117080 PMID:28204945 PMID:28385484 PMID:28476686 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29049388 PMID:29382718 PMID:29660491 PMID:29982877 PMID:30241959 PMID:30260545 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32581362
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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Pros1
protein S
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 PMID:31064749
NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
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Spink1
serine peptidase inhibitor, Kazal type 1
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:10691414 PMID:10835640 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12743777 PMID:12853682 PMID:16885867 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18286680 PMID:18414673 PMID:18617776 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:21303407 PMID:21375584 PMID:22427236 PMID:22749696 PMID:22995991 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:25010710 PMID:25206283 PMID:25741868 PMID:27535533 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28984793
NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
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Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532
NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
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Emp2
epithelial membrane protein 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 10
OMIM ClinVar
PMID:24814193
NCBI chr10:5,433,248...5,467,840
Ensembl chr10:5,433,248...5,467,839
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 11 ClinVar Annotator: match by term: Nephrotic syndrome, type 11
ClinVar OMIM
PMID:25741868 PMID:26411495 PMID:30179222
NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
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Nup93
nucleoporin 93
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 12 ClinVar Annotator: match by term: Nephrotic syndrome, type 12
ClinVar OMIM
PMID:25741868 PMID:26878725
NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
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Nup205
nucleoporin 205
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 13 ClinVar Annotator: match by term: Nephrotic syndrome, type 13
ClinVar OMIM
PMID:26878725
NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
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Sgpl1
sphingosine-1-phosphate lyase 1
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME 14 ClinVar Annotator: match by term: Nephrotic syndrome type 14
ClinVar OMIM
PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28181337 PMID:32233035 PMID:32860008
NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
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Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME 15 ClinVar Annotator: match by term: Nephrotic syndrome type 15
ClinVar OMIM
PMID:25741868 PMID:27932480
NCBI chr 4:10,995,241...12,472,423
Ensembl chr 4:10,995,234...11,610,518
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Kank2
KN motif and ankyrin repeat domains 2
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME 16
ClinVar OMIM
PMID:25961457
NCBI chr 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397
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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 chr10:104,137,655...104,156,576
Ensembl chr10:104,137,655...104,156,576
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Nup85
nucleoporin 85
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17
ClinVar OMIM
PMID:25741868 PMID:30179222
NCBI chr10:104,118,999...104,137,258
Ensembl chr10:104,118,945...104,137,319
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Nup133
nucleoporin 133
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 18
OMIM ClinVar
PMID:25741868 PMID:30179222
NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
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Nup160
nucleoporin 160
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 19
OMIM ClinVar
PMID:25741868 PMID:30179222
NCBI chr 3:79,496,239...79,562,163
Ensembl chr 3:79,498,179...79,551,128
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Anxa5
annexin A5
ISO
protein:increased expression:urine
RGD
PMID:17999093
RGD:7242031
NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
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Avil
advillin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:29058690
NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
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Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar
PMID:8589695 PMID:10742096 PMID:11805166 PMID:14675423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:17899208 PMID:18216321 PMID:18823551 PMID:19406966 PMID:20507940 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:23242530 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25741868 PMID:26420286 PMID:26467025 PMID:26594346 PMID:28492532 PMID:28658201 PMID:30450462 PMID:32581362
NCBI chr13:73,950,422...74,025,237
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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 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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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:112,769,595...112,983,720
Ensembl chr X:112,769,645...112,983,685
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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:32581362
NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:600995
OMIM ClinVar CTD
PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14871423 PMID:14978175 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15322893 PMID:15327385 PMID:15338398 PMID:15496146 PMID:15627790 PMID:15769810 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:16968734 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17635752 PMID:17699384 PMID:17899208 PMID:17942774 PMID:17942957 PMID:18216321 PMID:18392643 PMID:18443213 PMID:18481113 PMID:18499321 PMID:18543005 PMID:18683072 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:20001346 PMID:20025681 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24519673 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26248470 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:27766458 PMID:27885584 PMID:28204945 PMID:28385484 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29049388 PMID:29382718 PMID:29982877 PMID:30241959 PMID:30260545 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32581362
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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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 chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Nup205
nucleoporin 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
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Nup93
nucleoporin 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
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Pla2g7
phospholipase A2 group VII
disease_progression
ISO
RGD
PMID:9853251
RGD:7248793
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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Plce1
phospholipase C, epsilon 1
ISO
DNA:mutations: :
RGD
PMID:20591883
RGD:7257521
NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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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 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:29058690
NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9529364 PMID:9607189 PMID:10470095 PMID:10505700 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:23497137 PMID:23715653 PMID:23935527 PMID:25501161 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27899157 PMID:28204945 PMID:28492532 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Xpo5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
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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:30661770
NCBI chr X:110,894,831...110,983,269
Ensembl chr X:110,894,845...110,983,309
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Avil
advillin
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21
ClinVar OMIM
PMID:29058690
NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21
ClinVar
PMID:29058690
NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
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Nos1ap
nitric oxide synthase 1 adaptor protein
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 22
OMIM ClinVar
NCBI chr13:88,653,123...88,943,976
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Noc3l
NOC3-like DNA replication regulator
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 3
ClinVar
PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 PMID:24247120 PMID:25741868 PMID:26668027
NCBI chr 1:257,469,538...257,498,844
Ensembl chr 1:257,469,538...257,498,844
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Plce1
phospholipase C, epsilon 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar Annotator: match by OMIM:610725
OMIM ClinVar
PMID:17086182 PMID:18975016 PMID:20507940 PMID:20591883 PMID:22865593 PMID:23595123 PMID:24130771 PMID:24247120 PMID:24500309 PMID:24902943 PMID:25060053 PMID:25741868 PMID:26467025 PMID:26668027 PMID:27766458 PMID:28492532 PMID:28780565 PMID:31319225
NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 4
OMIM ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21499692 PMID:22099579 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar Annotator: match by This custom term has been created by RGD curators. ClinVar Annotator: match by OMIM:614199
OMIM ClinVar
PMID:7885444 PMID:14136829 PMID:16097004 PMID:16912710 PMID:18594871 PMID:19251977 PMID:20556798 PMID:21236492 PMID:21763483 PMID:23349334 PMID:23595123 PMID:25741868 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28492532
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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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 6:127,500,014...127,508,470
Ensembl chr 6:127,500,016...127,508,452
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Ptpro
protein tyrosine phosphatase, receptor type, O
ISO
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM ClinVar
PMID:21722858
NCBI chr 4:171,250,766...171,461,571
Ensembl chr 4:171,250,818...171,461,677
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Dgke
diacylglycerol kinase epsilon
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 7 ClinVar Annotator: match by OMIM:615008
OMIM ClinVar
PMID:23274426 PMID:23542698 PMID:24747643 PMID:25349199 PMID:25741868 PMID:29127259 PMID:29590070
NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
ClinVar Annotator: match by OMIM:615244
OMIM ClinVar
PMID:23867502
NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
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Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 9 ClinVar Annotator: match by OMIM:615573
OMIM ClinVar
PMID:24270420 PMID:25741868
NCBI chr 1:84,043,487...84,067,066
Ensembl chr 1:84,044,551...84,067,066
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Pierson syndrome ClinVar Annotator: match by OMIM:609049 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:2206901 PMID:14136829 PMID:15367484 PMID:15372515 PMID:16097004 PMID:16912710 PMID:17256789 PMID:18594871 PMID:20507940 PMID:20556798 PMID:21763483 PMID:23349334 PMID:23595123 PMID:24033266 PMID:25741868 PMID:26108971 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28492532 PMID:28780565 PMID:29127259 PMID:32860008 , PMID:15367484 , PMID:15367484
RGD:7207425 , RGD:7207425
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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Tns2
tensin 2
ISS
OMIM:609049
MouseDO
NCBI chr 7:143,702,623...143,720,995
Ensembl chr 7:143,707,237...143,720,595
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Ace
angiotensin I converting enzyme
treatment
IMP
RGD
PMID:3392211
RGD:12879820
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Acmsd
aminocarboxymuconate semialdehyde decarboxylase
IDA
RGD
PMID:16711654
RGD:13831123
NCBI chr13:44,424,689...44,468,734
Ensembl chr13:44,424,689...44,468,734
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Actr2
actin related protein 2
IEP
mRNA, protein:increased expression:cortex of kidney (rat)
RGD
PMID:19617259
RGD:11530057
NCBI chr14:104,338,486...104,375,840
Ensembl chr14:104,340,434...104,375,649
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Agt
angiotensinogen
IEP
RGD
PMID:8446257
RGD:11039400
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Apoe
apolipoprotein E
IEP
RGD
PMID:8413767
RGD:11040583
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Baiap2
BAR/IMD domain containing adaptor protein 2
IEP
protein:increased expression:glomerular visceral epithelial cell
RGD
PMID:17569780
RGD:9684990
NCBI chr10:109,107,326...109,187,458
Ensembl chr10:109,107,389...109,187,115
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Fas
Fas cell surface death receptor
IEP
protein:increased expression:renal glomerulus, renal interstitium, renal tubule
RGD
PMID:16152783
RGD:1600352
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Mmp2
matrix metallopeptidase 2
IEP
mRNA:increased expression:renal glomerulus (rat)
RGD
PMID:9175058
RGD:4144855
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Nphs1
NPHS1 adhesion molecule, nephrin
IEP
mRNA, protein:altered expression:glomerulus (rat)
RGD
PMID:21876538
RGD:38599163
NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
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Pak2
p21 (RAC1) activated kinase 2
IEP
RGD
PMID:20071462
RGD:9835041
NCBI chr11:72,829,407...72,865,815
Ensembl chr11:72,829,238...72,865,902
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Ren
renin
IEP
RGD
PMID:8446257
RGD:11039400
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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Xdh
xanthine dehydrogenase
treatment
IEP
RGD
PMID:26121320
RGD:13208956
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia ClinVar Annotator: match by term: Schimke immunoosseous dysplasia ClinVar Annotator: match by OMIM:242900 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:11799392 PMID:15523612 PMID:15880370 PMID:16237566 PMID:16840568 PMID:17089404 PMID:18805831 PMID:18974355 PMID:19127206 PMID:19793864 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23671665 PMID:24589093 PMID:25741868 PMID:25748404 PMID:26089390 PMID:26195148 PMID:26499378 PMID:28492532 PMID:28780565 PMID:28796785 PMID:29802247 PMID:30026777 PMID:30784191 , PMID:11799392
RGD:1599053
NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all