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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:nephrosis
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Accession:DOID:2527 term browser 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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nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 ISO protein:decreased activity:kidney (mouse) RGD PMID:11014984 RGD:7207147 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar Annotator: match by OMIM:219900
OMIM
ClinVar
PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12825071 PMID:15128704 PMID:15365816 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:21546516 PMID:21786142 PMID:22450360 PMID:22664570 PMID:23640116 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID: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
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
Diffuse Mesangial Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15367484 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link
familial nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Nephrosis, congenital ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome ClinVar PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28492532 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:11805166 PMID:14978175 PMID:16721582 PMID:24033266 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:1302008 PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:10762296 PMID:12050205 PMID: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
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: 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
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: 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
JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,044,956...70,045,886 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
ClinVar Annotator: match by OMIM:614748
OMIM
ClinVar
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
JBrowse link
lipoid nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment IEP RGD PMID:24119646 RGD:10043363 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Il13 interleukin 13 IMP RGD PMID:17429054 RGD:2290347 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A IEP Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Lgals1 galectin 1 IEP protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Minimal change glomerulonephritis ClinVar PMID:23687361 PMID:32581362 NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Stat6 signal transducer and activator of transcription 6 severity
no_association
ISO DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:polymorphism:3' utr:2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
RGD PMID:12900808, PMID:15687724, PMID:19011907 RGD:7244138, RGD:7244146, RGD:7244144 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:11304663, PMID:9453001 RGD:10046046 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 IEP protein:increased expression:kidney (rat) RGD PMID:19147991 RGD:2307223 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Ace angiotensin I converting enzyme treatment IDA
IMP
protein:increased activity:multiple RGD PMID:2175683, PMID:15942045 RGD:11038913, RGD:1598707 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1556257 PMID:17178036, PMID:22203175 RGD:11036090 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:19194550 RGD:2317535 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Apoa1 apolipoprotein A1 IEP RGD PMID:18614621 RGD:2313652 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B IEP protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Cd2 Cd2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chr 2:203,666,706...203,680,073
Ensembl chr 2:203,666,637...203,680,083
JBrowse link
G Cfl1 cofilin 1 treatment IEP RGD PMID:24737737 RGD:11570418 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Ctsl cathepsin L IEP mRNA, protein:increased expression:glomerulus (rat) RGD PMID:15197181 RGD:1304337 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Ddc dopa decarboxylase IEP protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Ece1 endothelin converting enzyme 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Ednra endothelin receptor type A IEP mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23128049 RGD:11041725 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fat1 FAT atypical cadherin 1 ISS
ISO
ClinVar Annotator: match by term: Nephrotic syndrome MouseDO
ClinVar
PMID:25741868 PMID:26905694 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441931 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial IEP RGD PMID:18614621 RGD:2313652 NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:100,283,131...101,776,838 JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:plasma RGD PMID:12824952 RGD:1625122 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
JBrowse link
G Guca2b guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 5:138,695,591...138,697,641
Ensembl chr 5:138,695,591...138,697,641
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:11248742 RGD:12910863 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Il1b interleukin 1 beta severity IEP
ISO
protein:increased expression:serum (human)
associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)
RGD PMID:21359962, PMID:21103916, PMID:14760799 RGD:7175324, RGD:7175339, RGD:7175337 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) RGD PMID:14758530 RGD:6907374 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:24812565 RGD:10402803 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22665336 RGD:7240715 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Itsn2 intersectin 2 ISS MouseDO NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IEP RGD PMID:21606114 RGD:7244390 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29534211 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Lipc lipase C, hepatic type IDA protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr 8:76,644,715...76,840,240
Ensembl chr 8:76,754,492...76,839,593
JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779
JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment IEP
ISO
ISS
mRNA,protein:decreased expression:podocyte (mouse)
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
MouseDO PMID:15942045, PMID:22493483 RGD:1598707, RGD:38599005 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin treatment IEP
ISO
ClinVar Annotator: match by term: Nephrotic range proteinuria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 PMID:12649741 PMID:14570703 PMID:14675423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:16898497 PMID:17371932 PMID: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
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 treatment ISO RGD PMID:15833166 RGD:7174719 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO
IEP
protein:increased activity:plasma RGD PMID:15292677, PMID:8692015 RGD:7248795, RGD:7257517 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plce1 phospholipase C, epsilon 1 onset ISO DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar PMID:17086182 RGD:7257519 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:19194550 RGD:2317535 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6420562 PMID:11095018 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Serpinc1 serpin family C member 1 disease_progression IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:11304663, PMID:7532794, PMID:8979144 RGD:11035294, RGD:11038563 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Smad1 SMAD family member 1 IEP RGD PMID:17803470 RGD:1643224 NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
JBrowse link
G Soat2 sterol O-acyltransferase 2 IEP mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9152291, PMID:9152291 RGD:11035285 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:31732614 NCBI chr  X:110,894,831...110,983,269
Ensembl chr  X:110,894,845...110,983,309
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 PMID:8023968 PMID:10515446 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:26467025 PMID:28204945 NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Vldlr very low density lipoprotein receptor IEP protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:12050205 PMID:19484379 PMID:20442690 PMID:23515051 PMID:24161391 PMID:28492532 PMID:29668062 PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
nephrotic syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:12384774 PMID:25741868 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar PMID:25741868 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID: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 JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:15338398 PMID:19406966 PMID:20172850 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28492532 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome
ClinVar 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
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:10691414 PMID:10835640 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12743777 PMID:12853682 PMID:16885867 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18286680 PMID:18414673 PMID:18617776 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:21303407 PMID:21375584 PMID:22427236 PMID:22749696 PMID:22995991 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:25010710 PMID:25206283 PMID:25741868 PMID:27535533 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28984793 NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
nephrotic syndrome type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 10 OMIM
ClinVar
PMID:24814193 NCBI chr10:5,433,248...5,467,840
Ensembl chr10:5,433,248...5,467,839
JBrowse link
nephrotic syndrome type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 11
ClinVar Annotator: match by term: Nephrotic syndrome, type 11
ClinVar
OMIM
PMID:25741868 PMID:26411495 PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
JBrowse link
nephrotic syndrome type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 12
ClinVar Annotator: match by term: Nephrotic syndrome, type 12
ClinVar
OMIM
PMID:25741868 PMID:26878725 NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
JBrowse link
nephrotic syndrome type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 13
ClinVar Annotator: match by term: Nephrotic syndrome, type 13
ClinVar
OMIM
PMID:26878725 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
JBrowse link
nephrotic syndrome type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME 14
ClinVar Annotator: match by term: Nephrotic syndrome type 14
ClinVar
OMIM
PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28181337 PMID:32233035 PMID:32860008 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
JBrowse link
nephrotic syndrome type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME 15
ClinVar Annotator: match by term: Nephrotic syndrome type 15
ClinVar
OMIM
PMID:25741868 PMID:27932480 NCBI chr 4:10,995,241...12,472,423
Ensembl chr 4:10,995,234...11,610,518
JBrowse link
nephrotic syndrome type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME 16 ClinVar
OMIM
PMID:25961457 NCBI chr 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397
JBrowse link
nephrotic syndrome type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17 ClinVar PMID:25741868 PMID:30179222 NCBI chr10:104,137,655...104,156,576
Ensembl chr10:104,137,655...104,156,576
JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17 ClinVar
OMIM
PMID:25741868 PMID:30179222 NCBI chr10:104,118,999...104,137,258
Ensembl chr10:104,118,945...104,137,319
JBrowse link
nephrotic syndrome type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 18 OMIM
ClinVar
PMID:25741868 PMID:30179222 NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
JBrowse link
nephrotic syndrome type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 19 OMIM
ClinVar
PMID:25741868 PMID:30179222 NCBI chr 3:79,496,239...79,562,163
Ensembl chr 3:79,498,179...79,551,128
JBrowse link
nephrotic syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: 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 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:32581362 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: 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
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9529364 PMID:9607189 PMID:10470095 PMID:10505700 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:23497137 PMID:23715653 PMID:23935527 PMID:25501161 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27899157 PMID:28204945 PMID:28492532 PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
JBrowse link
nephrotic syndrome type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 20 OMIM
ClinVar
PMID:25741868 PMID:30661770 NCBI chr  X:110,894,831...110,983,269
Ensembl chr  X:110,894,845...110,983,309
JBrowse link
Nephrotic Syndrome Type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21 ClinVar
OMIM
PMID:29058690 NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21 ClinVar PMID:29058690 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
JBrowse link
Nephrotic Syndrome Type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 JBrowse link
nephrotic syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 PMID:24247120 PMID:25741868 PMID:26668027 NCBI chr 1:257,469,538...257,498,844
Ensembl chr 1:257,469,538...257,498,844
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3
ClinVar Annotator: match by OMIM:610725
OMIM
ClinVar
PMID:17086182 PMID:18975016 PMID:20507940 PMID:20591883 PMID:22865593 PMID:23595123 PMID:24130771 PMID:24247120 PMID:24500309 PMID:24902943 PMID:25060053 PMID:25741868 PMID:26467025 PMID:26668027 PMID:27766458 PMID:28492532 PMID:28780565 PMID:31319225 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link
nephrotic syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 4 OMIM
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID: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
JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614199
OMIM
ClinVar
PMID:7885444 PMID:14136829 PMID:16097004 PMID:16912710 PMID:18594871 PMID:19251977 PMID:20556798 PMID:21236492 PMID:21763483 PMID:23349334 PMID:23595123 PMID:25741868 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28492532 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868 NCBI chr 6:127,500,014...127,508,470
Ensembl chr 6:127,500,016...127,508,452
JBrowse link
nephrotic syndrome type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
ClinVar
PMID:21722858 NCBI chr 4:171,250,766...171,461,571
Ensembl chr 4:171,250,818...171,461,677
JBrowse link
nephrotic syndrome type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 7
ClinVar Annotator: match by OMIM:615008
OMIM
ClinVar
PMID:23274426 PMID:23542698 PMID:24747643 PMID:25349199 PMID:25741868 PMID:29127259 PMID:29590070 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
nephrotic syndrome type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by OMIM:615244 OMIM
ClinVar
PMID:23867502 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
JBrowse link
nephrotic syndrome type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by 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
JBrowse link
Pierson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by OMIM:609049
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2206901 PMID:14136829 PMID:15367484 PMID:15372515 PMID:16097004 PMID:16912710 PMID:17256789 PMID:18594871 PMID:20507940 PMID:20556798 PMID:21763483 PMID:23349334 PMID:23595123 PMID:24033266 PMID:25741868 PMID:26108971 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28492532 PMID:28780565 PMID:29127259 PMID:32860008, PMID:15367484, PMID:15367484 RGD:7207425, RGD:7207425 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:143,702,623...143,720,995
Ensembl chr 7:143,707,237...143,720,595
JBrowse link
Puromycin Aminonucleoside Nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Agt angiotensinogen IEP RGD PMID:8446257 RGD:11039400 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ren renin IEP RGD PMID:8446257 RGD:11039400 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G 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
JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
ClinVar Annotator: match by OMIM:242900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11799392 PMID:15523612 PMID:15880370 PMID:16237566 PMID:16840568 PMID:17089404 PMID:18805831 PMID:18974355 PMID:19127206 PMID:19793864 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23671665 PMID:24589093 PMID:25741868 PMID:25748404 PMID:26089390 PMID:26195148 PMID:26499378 PMID:28492532 PMID:28780565 PMID:28796785 PMID:29802247 PMID:30026777 PMID:30784191, PMID:11799392 RGD:1599053 NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Pathological Conditions, Signs and Symptoms 8840
      Signs and Symptoms 5276
        Urological Manifestations 548
          proteinuria 511
            nephrosis 241
              Forsythe-Wakeling Syndrome 0
              Galloway-Mowat syndrome + 10
              Nephrosialidosis 0
              Nephrosis Deafness Urinary Tract Digital Malformation 0
              Pulmonic Stenosis and Congenital Nephrosis 0
              Puromycin Aminonucleoside Nephrosis 12
              hypoparathyroidism-deafness-renal disease syndrome 70
              lipoid nephrosis 7
              nephrotic syndrome + 120
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        urinary system disease 2074
          kidney disease 1858
            proteinuria 511
              nephrosis 241
                Forsythe-Wakeling Syndrome 0
                Galloway-Mowat syndrome + 10
                Nephrosialidosis 0
                Nephrosis Deafness Urinary Tract Digital Malformation 0
                Pulmonic Stenosis and Congenital Nephrosis 0
                Puromycin Aminonucleoside Nephrosis 12
                hypoparathyroidism-deafness-renal disease syndrome 70
                lipoid nephrosis 7
                nephrotic syndrome + 120
paths to the root