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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:A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. (DO)
Synonyms:exact_synonym: nephroses
 primary_id: MESH:D009401
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr10:91,410,129...91,430,246 JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 NCBI chr19:69,426,540...69,447,017 JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3301049 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Angpt1 angiopoietin 1 IEP mRNA, protein:decreased expression:glomerulus RGD PMID:16626513 RGD:1626164 NCBI chr 7:75,415,959...75,668,696 JBrowse link
G Angpt2 angiopoietin 2 IDA
IEP		 mRNA:increased expression:kidney (rat) RGD PMID:18929866 PMID:18929864 RGD:2314177, RGD:2314178 NCBI chr16:71,088,364...71,138,805 JBrowse link
G Cat catalase ISO mRNA: decreased expression: glomerulus RGD PMID:20685819 RGD:7205671 NCBI chr 3:110,297,340...110,329,526 JBrowse link
G Ccl1 C-C motif chemokine ligand 1 IEP RGD PMID:10867541 RGD:4891422 NCBI chr10:67,625,962...67,628,740 JBrowse link
G Ccl7 C-C motif chemokine ligand 7 IEP RGD PMID:10867541 RGD:4891422 NCBI chr10:67,514,095...67,515,945 JBrowse link
G Cd36 CD36 molecule IEP RGD PMID:19147991 RGD:2307223 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:19889873 RGD:7248422 NCBI chr  X:140,164,341...140,176,057 JBrowse link
G Cd59b CD59b molecule IMP RGD PMID:15843577 RGD:1600482 NCBI chr 3:110,914,008...110,932,489 JBrowse link
G Cfh complement factor H IEP protein:altered expression:kidney: RGD PMID:22815489 RGD:7364901 NCBI chr13:51,512,376...51,613,829 JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:19590241 RGD:4891946 NCBI chr19:10,233,326...10,244,856 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP RGD PMID:19590241 RGD:4891946 NCBI chr 8:128,661,294...128,679,048 JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP mRNA:decreased expression RGD PMID:16574160 RGD:1599698 NCBI chr 8:67,318,665...67,330,196 JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:1328752 RGD:2307321 NCBI chr 7:64,756,626...64,761,570 JBrowse link
G Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr12:8,880,509...8,930,382 JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr12:21,919,955...21,960,160 JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP
ISO		 Protein:increased expression:glomerulus, podocyte
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16400006 PMID:16400006 RGD:1599729 NCBI chr 7:65,001,695...65,006,517 JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16418842 NCBI chr 9:84,299,626...84,307,344 JBrowse link
G Edn1 endothelin 1 IEP
ISO		 mRNA:increased expression:glomerulus (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7756592 PMID:9175058 RGD:4144855 NCBI chr17:22,660,799...22,666,687 JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7756592 NCBI chr15:87,055,490...87,086,765 JBrowse link
G F2 coagulation factor II, thrombin IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18541230 PMID:18541230 RGD:6893577 NCBI chr 3:98,051,958...98,065,246 JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr17:68,643,760...68,666,000 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:22046528 RGD:7240570 NCBI chr 8:117,905,462...117,906,588 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:17213874 RGD:7246891 NCBI chr10:31,118,667...31,151,730 JBrowse link
G Hpse heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16899518 NCBI chr14:9,200,971...9,241,377 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr 8:27,829,688...27,841,618 JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:22582804 RGD:7175170 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr20:11,061,009...11,097,242 JBrowse link
G Lamb2 laminin subunit beta 2 ISS MouseDO NCBI chr 8:109,178,367...109,190,552 JBrowse link
G Lrp2 LDL receptor related protein 2 IEP mRNA:decreased expression:glomerulus RGD PMID:10919857 RGD:1641827 NCBI chr 3:54,189,305...54,346,769 JBrowse link
G Nes nestin IEP
ISO		 mRNA, protein:increased expression:glomerulus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16418842 PMID:17637254 RGD:1642072 NCBI chr 2:175,735,715...175,745,631 JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr13:68,448,720...68,461,312 JBrowse link
G Nppa natriuretic peptide A IEP protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 5:163,712,184...163,713,493 JBrowse link
G Nppb natriuretic peptide B IEP protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 5:163,699,955...163,701,314 JBrowse link
G Pdpn podoplanin IEP mRNA, protein:decreased expression:glomerulus RGD PMID:9327748 RGD:632934 NCBI chr 5:155,601,691...155,635,656 JBrowse link
G Ptpru protein tyrosine phosphatase, receptor type, U IEP mRNA, protein:decreased expression:glomerulus RGD PMID:17457373 RGD:1642654 NCBI chr 5:143,950,542...144,024,791 JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 PMID:6358456 NCBI chr13:47,348,312...47,359,539 JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2273594 NCBI chr11:42,942,742...42,948,399 JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP protein:altered localization:nucleus RGD PMID:19147991 RGD:2307223 NCBI chr 7:115,542,774...115,600,945 JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:decreased expression:ovary RGD PMID:16574160 RGD:1599698 NCBI chr16:72,969,824...72,974,447 JBrowse link
G Vim vimentin IEP
ISO		 mRNA,protein:increased expression:podocyte
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16418842 PMID:16418842 RGD:6480447 NCBI chr17:81,577,261...81,585,746 JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chr 3:99,066,857...99,067,942 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 8:12,943,453...12,963,966 JBrowse link
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,891,704...57,945,267 JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chr10:58,300,069...58,315,725 JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr10:58,316,065...58,340,489 JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,795,845...57,800,363 JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr10:58,349,936...58,375,021 JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:58,382,054...58,413,657 JBrowse link
Diffuse Mesangial Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25514610 PMID:25741868 PMID:28492532 PMID:28632965 NCBI chr 9:83,833,173...83,875,436 JBrowse link
G Lamb2 laminin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse mesangial sclerosis		 CTD
ClinVar		 PMID:15367484 PMID:25741868 PMID:28492532 NCBI chr 8:109,178,367...109,190,552 JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr 1:236,243,445...236,552,571 JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:112,019,721...112,068,454 JBrowse link
familial nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:14675423 PMID:14978175 More... NCBI chr13:68,471,957...68,544,788 JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Familial nephrotic syndrome ClinVar PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 More... NCBI chr 1:85,708,793...85,718,670 JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... NCBI chr13:68,448,720...68,461,312 JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr 6:127,647,389...127,663,276 JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:152,138,209...152,139,632 JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr15:24,137,149...24,144,568 JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:174,638,962...174,645,198 JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:118,342,910...118,357,908 JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,587,205...9,611,434 JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:25466283 PMID:25741868 NCBI chr 1:134,860,329...134,868,475 JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:144,355,227...144,411,686 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 More... NCBI chr 3:36,332,190...36,370,324 JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 1:134,860,329...134,868,475 JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:144,355,227...144,411,686 JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf122 similar to human chromosome 1 open reading frame 122 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition ClinVar PMID:28492532 PMID:31481669 NCBI chr 5:137,109,093...137,110,130 JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition OMIM
ClinVar		 PMID:28492532 PMID:31481669 PMID:34545459 NCBI chr 5:137,110,244...137,115,127 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 Annotator: match by term: LAGE3-related condition OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:152,138,209...152,139,632 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: OSGEP-related condition OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:24,137,149...24,144,568 JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr 3:174,638,962...174,645,198 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 4:118,342,910...118,357,908 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 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr20:9,587,205...9,611,434 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:28492532 More... NCBI chr 7:53,353,740...53,398,345 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 | ClinVar Annotator: match by term: NUP133-related condition OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr19:51,891,606...51,941,243 JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr 6:127,647,389...127,663,276 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: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,903,936...74,909,977 JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:70,720,397...70,747,285 JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:70,669,684...70,717,935 JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,020,884...71,037,779 JBrowse link
G Akr1e2 aldo-keto reductase family 1, member E2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,735,909...65,750,441 JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,735,325...66,748,533 JBrowse link
G Arl5b ARF like GTPase 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:82,864,315...82,888,458 JBrowse link
G Asb13 ankyrin repeat and SOCS box-containing 13 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,564,653...66,583,365 JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,333,584...73,355,872 JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,483,212...73,566,221 JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,119,344...76,129,170 JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:82,473,097...82,818,564 JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,419,844...66,423,083 JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,394,433...66,395,352 JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,491,191...77,892,018 JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,031,891...73,135,173 JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,459,270...72,503,316 JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,714,564...74,728,639 JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:70,904,462...71,729,072 JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,385,046...76,593,133 JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:79,684,988...79,718,399 JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,355,201...72,406,725 JBrowse link
G Echdc3 enoyl CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,070,697...72,093,519 JBrowse link
G Fam107b family with sequence similarity 107, member B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,478,608...74,685,027 JBrowse link
G Fam171a1 family with sequence similarity 171, member A1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,024,582...75,148,348 JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,749,506...66,787,590 JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,667,787...74,258,487 JBrowse link
G Gata3 GATA binding protein 3 ISO
ISS		 ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
OMIM:146255
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr17:68,643,760...68,666,000 JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,559,460...71,586,147 JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,081,508...77,106,114 JBrowse link
G Hspa14 heat shock protein family A (Hsp70) member 14 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:79,638,106...79,658,888 JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,802,300...66,831,973 JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,849,974...66,898,665 JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,304,004...75,501,510 JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,375,574...68,411,849 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 chr17:68,248,115...68,352,216 JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,413,483...68,431,392 JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:78,172,049...78,197,644 JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,810,791...74,828,433 JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,545,286...75,623,884 JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,251,145...71,280,345 JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,917,833...74,964,788 JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,912,374...77,955,694 JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,435,690...72,459,008 JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:79,786,441...79,811,692 JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,209,572...73,260,251 JBrowse link
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,893,320...71,974,526 JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,329,461...73,346,359 JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,156,215...72,288,508 JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,151,961...72,187,524 JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:78,539,004...78,570,483 JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,058,388...76,119,633 JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,846,941...71,863,834 JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,914,066...74,917,742 JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,128,774...76,377,515 JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,407,574...72,445,630 JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:78,263,725...78,296,132 JBrowse link
G Sfmbt2 Scm-like with four mbt domains 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:67,934,296...68,128,905 JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,353,761...77,440,384 JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,740,755...76,884,178 JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,120,235...77,166,173 JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,756,290...74,775,332 JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,455,389...68,608,367 JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,504,656...71,559,878 JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,601,966...76,646,104 JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,323,733...66,332,423 JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,293,977...73,303,709 JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,219,611...71,225,904 JBrowse link
G Upf2 UPF2, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,224,575...72,335,896 JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,828,433...71,956,878 JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:81,577,261...81,585,746 JBrowse link
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar		 PMID:16199547 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 More... NCBI chr10:79,990,160...80,022,206 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 chr20:7,150,820...7,161,373 JBrowse link
G Il13 interleukin 13 IMP RGD PMID:17429054 RGD:2290347 NCBI chr10:38,290,926...38,293,483 JBrowse link
G Il17a interleukin 17A IEP Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chr 9:30,640,844...30,644,331 JBrowse link
G Lgals1 galectin 1 IEP protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chr 7:112,365,695...112,368,801 JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Lipoid nephrosis ClinVar PMID:23687361 PMID:32581362 NCBI chr 3:16,862,195...16,940,899 JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chr18:31,522,783...31,644,508 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 7:65,365,505...65,382,825 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
RGD		 PMID:11304663 PMID:9453001 RGD:10046046 NCBI chr 4:154,897,770...154,947,787 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 IEP protein:increased expression:kidney (rat) RGD PMID:19147991 RGD:2307223 NCBI chr 8:53,979,813...54,008,861 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 chr10:91,410,129...91,430,246 JBrowse link
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 1:84,182,783...84,251,867 JBrowse link
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10453743 PMID:15110324 PMID:15327387 PMID:15464418 PMID:17495019 More... NCBI chr 9:101,122,793...101,132,746 JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1556257 PMID:17178036 PMID:22203175 RGD:11036090 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 4:119,683,085...119,783,471 JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:19194550 RGD:2317535 NCBI chr 4:151,203,948...151,251,126 JBrowse link
G Anln anillin, actin binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 8:20,858,227...20,921,602 JBrowse link
G Apoa1 apolipoprotein A1 IEP RGD PMID:18614621 RGD:2313652 NCBI chr 8:55,423,945...55,425,729 JBrowse link
G Apob apolipoprotein B IEP protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chr 6:36,563,704...36,603,300 JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 1:79,329,429...79,334,397 JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 8:46,531,478...46,533,658 JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chr 1:88,481,889...88,485,816 JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr14:6,800,624...7,183,877 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 chr10:106,352,858...106,356,347 JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 9:73,164,846...73,184,897 JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr 7:64,711,294...64,729,436 JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 More... NCBI chr13:68,471,957...68,544,788 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 2:176,136,341...176,137,318 JBrowse link
G Cd2 Cd2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chr 2:188,710,895...188,724,044 JBrowse link
G Cdk20 cyclin-dependent kinase 20 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29127259 NCBI chr17:706,863...717,828 JBrowse link
G Cfi complement factor I disease_progression ISO RGD PMID:9745775 RGD:108019049 NCBI chr 2:218,389,079...218,430,565 JBrowse link
G Cfl1 cofilin 1 treatment IEP RGD PMID:24737737 RGD:11570418 NCBI chr 1:212,227,124...212,230,656 JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:15086899 PMID:15895257 PMID:19657328 PMID:22083641 PMID:23566014 More... NCBI chr  X:17,857,260...18,011,844 JBrowse link
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:19008299 PMID:25741868 PMID:29127259 NCBI chr10:98,695,481...98,708,495 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr10:80,380,458...80,397,461 JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:84,885,597...84,996,482 JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:78,047,591...78,183,360 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375 NCBI chr 9:83,875,849...84,004,955 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:21196518 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 More... NCBI chr 9:83,833,173...83,875,436 JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:9848783 PMID:15044104 More... NCBI chr  X:109,907,251...110,111,214 JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:25349199 More... NCBI chr14:8,941,429...8,961,418 JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33532864 NCBI chr 1:91,653,241...91,676,822 JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chr15:50,557,722...50,606,569 JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10556299 PMID:19580442 PMID:24464559 PMID:25741868 PMID:29127259 NCBI chr10:58,300,069...58,315,725 JBrowse link
G Ctsl cathepsin L IEP mRNA, protein:increased expression:glomerulus (rat) RGD PMID:15197181 RGD:1304337 NCBI chr17:770,104...776,266 JBrowse link
G Ddc dopa decarboxylase IEP protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chr14:86,378,685...86,469,189 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chr 7:110,104,514...110,119,091 JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23274426 PMID:25349199 PMID:25741868 PMID:29127259 NCBI chr10:74,348,931...74,374,509 JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 PMID:29127259 NCBI chr17:72,355,201...72,406,725 JBrowse link
G Ece1 endothelin converting enzyme 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chr 5:155,361,031...155,462,723 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34783119 NCBI chr17:22,660,799...22,666,687 JBrowse link
G Ednra endothelin receptor type A IEP mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chr19:47,137,360...47,207,961 JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23128049 RGD:11041725 NCBI chr12:19,204,258...19,207,948 JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 2:212,511,675...212,523,375 JBrowse link
G Fat1 FAT atypical cadherin 1 ISS
ISO		 ClinVar Annotator: match by term: Nephrotic syndrome MouseDO
ClinVar		 PMID:25741868 PMID:26905694 PMID:28492532 NCBI chr16:47,177,253...47,296,261 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441931 NCBI chr 2:122,164,454...122,218,796 JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 9:80,645,507...80,714,200 JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:102,062,497...102,073,915 JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chr10:55,352,938...55,355,804 JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial IEP RGD PMID:18614621 RGD:2313652 NCBI chr 1:264,111,599...264,176,112 JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:92,207,275...93,644,054 JBrowse link
G Gpx1 glutathione peroxidase 1 IEP mRNA:increased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chr 8:117,905,462...117,906,588 JBrowse link
G Gpx3 glutathione peroxidase 3 ISO
IEP		 protein:decreased expression:plasma
mRNA:decreased expression:kidney		 RGD PMID:12824952 PMID:20685819 PMID:20685819 RGD:1625122, RGD:7205671, RGD:7205671 NCBI chr10:39,529,335...39,537,406 JBrowse link
G Gpx4 glutathione peroxidase 4 ISO mRNA:decreased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chr 7:10,300,833...10,303,629 JBrowse link
G Guca2b guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 5:133,246,891...133,248,941 JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr19:50,307,569...50,312,812 JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:11248742 RGD:12910863 NCBI chr10:14,397,076...14,408,439 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 3:137,030,200...137,036,581 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 3:27,509,836...27,525,738 JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chr 2:121,932,968...121,937,672 JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:24812565 RGD:10402803 NCBI chr10:38,272,003...38,277,549 JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22665336 RGD:7240715 NCBI chr10:38,375,132...38,378,003 JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29127259 NCBI chr 6:131,649,162...131,675,944 JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:22512483 PMID:29127259 NCBI chr10:79,990,160...80,022,206 JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,705,592...101,741,933 JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29773874 NCBI chr11:44,464,515...44,646,598 JBrowse link
G Itsn2 intersectin 2 ISS MouseDO NCBI chr 6:33,336,086...33,446,818 JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chr 1:236,408,905...236,468,769 JBrowse link
G Kank4 KN motif and ankyrin repeat domains 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:25961457 PMID:28492532 PMID:29127259 NCBI chr 5:118,516,994...118,581,024 JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IEP RGD PMID:21606114 RGD:7244390 NCBI chr 8:30,779,883...30,808,607 JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11317351 PMID:11854170 PMID:12039988 PMID:18503012 PMID:20507940 More... NCBI chr 1:85,708,793...85,718,670 JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23999528 PMID:24130771 PMID:25741868 PMID:26553438 PMID:28492532 More... NCBI chr 3:167,270,296...167,318,370 JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:2206901 PMID:9536098 PMID:15367484 PMID:17576681 PMID:18672223 More... NCBI chr 8:109,178,367...109,190,552 JBrowse link
G Lipc lipase C, hepatic type IDA protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chr 8:71,509,633...71,635,663 JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 3:16,862,195...16,940,899 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 6:25,221,668...25,236,241 JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:111,224,291...111,304,963 JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29127259 NCBI chr 8:70,887,934...71,080,180 JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:109,897,723...109,958,247 JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:53,206,006...53,332,417 JBrowse link
G Nfkbia NFKB inhibitor alpha exacerbates ISO protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:17441336 RGD:127285019 NCBI chr 6:78,593,844...78,597,307 JBrowse link
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 1:245,969,179...245,997,761 JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chr12:44,276,011...44,456,371 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
RGD		 PMID:15942045 PMID:22493483 RGD:1598707, RGD:38599005 NCBI chr 1:85,720,812...85,749,079 JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin treatment IEP
ISO
ISS		 ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... RGD:1598707 NCBI chr13:68,448,720...68,461,312 JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 treatment ISO RGD PMID:15833166 RGD:7174719 NCBI chr18:31,522,783...31,644,508 JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:30655312 More... NCBI chr19:10,684,214...10,788,009 JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11519896 PMID:15966048 PMID:18019379 PMID:21791310 PMID:25741868 More... NCBI chr15:24,137,149...24,144,568 JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 1:243,616,509...243,697,454 JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:17186472 PMID:17374725 PMID:19096106 PMID:20689595 PMID:23816342 More... NCBI chr20:46,709,631...46,938,704 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 9:17,362,214...17,404,476 JBrowse link
G Plce1 phospholipase C, epsilon 1 onset ISO DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:29127259 PMID:17086182 RGD:7257519 NCBI chr 1:236,243,445...236,552,571 JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29244787 PMID:30523047 NCBI chr 4:60,135,124...60,181,829 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chr14:63,073,505...63,729,215 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:19194550 RGD:2317535 NCBI chr13:64,714,063...64,722,320 JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr13:47,348,312...47,359,539 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6420562 PMID:11095018 NCBI chr20:4,548,664...4,558,237 JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 9:23,661,278...23,990,248 JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 4:158,122,962...158,146,184 JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 1:185,861,326...185,915,717 JBrowse link
G Serpinc1 serpin family C member 1 disease_progression IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11304663 PMID:7532794 PMID:8979144 RGD:11035294, RGD:11038563 NCBI chr13:75,790,558...75,804,826 JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr12:25,237,977...25,248,356 JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23232022 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28492532 More... NCBI chr20:29,047,793...29,094,209 JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr20:32,573,091...32,961,466 JBrowse link
G Smad1 SMAD family member 1 IEP RGD PMID:17803470 RGD:1643224 NCBI chr19:45,417,430...45,477,962 JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156 JBrowse link
G Soat2 sterol O-acyltransferase 2 IEP mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chr 7:135,160,424...135,173,521 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9152291 PMID:9152291 RGD:11035285 NCBI chr 1:50,043,323...50,050,168 JBrowse link
G Synpo synaptopodin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33615071 NCBI chr18:54,048,299...54,106,388 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:108,107,796...108,195,744 JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chr 8:103,789,780...103,816,487 JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chr 3:89,939,862...89,989,253 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 PMID:8023968 PMID:10515446 NCBI chr 1:90,324,312...90,340,627 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 7:87,456,318...87,484,324 JBrowse link
G Tns2 tensin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29773874 NCBI chr 7:133,229,746...133,247,889 JBrowse link
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28805828 PMID:29127259 NCBI chr 4:118,342,910...118,357,908 JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:15924139 PMID:19129465 PMID:21734084 PMID:23645677 PMID:25741868 More... NCBI chr 8:14,044,216...14,148,808 JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 3:71,269,425...71,343,936 JBrowse link
G Vldlr very low density lipoprotein receptor IEP protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chr 1:234,239,769...234,272,150 JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:16217710 PMID:25741868 PMID:25873735 PMID:26123727 PMID:27001912 More... NCBI chr 1:134,860,329...134,868,475 JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:112,019,721...112,068,454 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 PMID:28492532 NCBI chr 1:105,583,681...105,637,895 JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:2296603 PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 More... NCBI chr10:10,346,538...10,356,768 JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr10:106,352,858...106,356,347 JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:11805166 PMID:12464671 PMID:12707396 PMID:14978175 PMID:15253708 More... NCBI chr13:68,471,957...68,544,788 JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr10:67,525,975...67,530,576 JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr16:47,177,253...47,296,261 JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition ClinVar PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 PMID:12039988 More... NCBI chr 1:85,708,793...85,718,670 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr 1:85,720,812...85,749,079 JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 More... NCBI chr13:68,448,720...68,461,312 JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr 1:236,243,445...236,552,571 JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:10790208 PMID:11127877 PMID:11858485 PMID:18322254 PMID:20880255 More... NCBI chr11:13,676,310...13,757,858 JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 More... NCBI chr18:35,870,723...35,882,693 JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 3:71,269,425...71,343,936 JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:22099579 PMID:25741868 PMID:27719739 NCBI chr 3:112,019,721...112,068,454 JBrowse link
nephrotic syndrome type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: EMP2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 10 OMIM
ClinVar		 PMID:24814193 PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr10:5,866,869...5,901,533 JBrowse link
nephrotic syndrome type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 11 OMIM
ClinVar		 PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222 NCBI chr 7:53,353,740...53,398,345 JBrowse link
nephrotic syndrome type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 12 ClinVar PMID:25741868 NCBI chr 3:182,059,318...182,135,273 JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864 NCBI chr19:10,684,214...10,788,009 JBrowse link
nephrotic syndrome type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: NUP205-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 13 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 NCBI chr 4:63,854,934...63,920,852 JBrowse link
nephrotic syndrome type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome 14 | ClinVar Annotator: match by term: SGPL1-related condition OMIM
ClinVar		 PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More... NCBI chr20:29,047,793...29,094,209 JBrowse link
nephrotic syndrome type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 More... NCBI chr 4:14,386,389...15,870,036 JBrowse link
nephrotic syndrome type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr 8:28,587,770...28,617,212 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 chr10:100,825,427...100,843,422 JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: NUP85-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr10:100,806,482...100,825,029 JBrowse link
nephrotic syndrome type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr19:51,891,606...51,941,243 JBrowse link
nephrotic syndrome type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: NUP160-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 19 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr 3:76,665,786...76,729,296 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 2:121,242,133...121,272,935 JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr 7:64,711,294...64,729,436 JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More... NCBI chr13:68,471,957...68,544,788 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 9:83,875,849...84,004,955 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:83,833,173...83,875,436 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:109,907,251...110,111,214 JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More... NCBI chr 3:21,542,138...21,564,876 JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome ClinVar PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798 NCBI chr16:47,177,253...47,296,261 JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chr13:68,448,720...68,461,312 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 chr18:31,522,783...31,644,508 JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:63,854,934...63,920,852 JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:10,684,214...10,788,009 JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr 1:243,616,509...243,697,454 JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:17,362,214...17,404,476 JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:236,243,445...236,552,571 JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156 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 8:14,044,216...14,148,808 JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr 7:64,714,330...64,750,106 JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:112,019,721...112,068,454 JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:22,237,760...22,275,745 JBrowse link
nephrotic syndrome type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 20 | ClinVar Annotator: match by term: TBC1D8B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30661770 PMID:31732614 NCBI chr  X:108,107,796...108,195,744 JBrowse link
nephrotic syndrome type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: AVIL-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 21 OMIM
ClinVar		 PMID:25741868 PMID:29058690 NCBI chr 7:64,711,294...64,729,436 JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 21 ClinVar PMID:25741868 PMID:29058690 NCBI chr 7:64,714,330...64,750,106 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: NOS1AP-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 22 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33523862 NCBI chr13:82,547,799...82,820,999 JBrowse link
nephrotic syndrome type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kirrel1 kirre like nephrin family adhesion molecule 1 ISO ClinVar Annotator: match by term: KIRREL1-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 23 OMIM
ClinVar		 PMID:25741868 PMID:31472902 NCBI chr 2:172,521,644...172,615,057 JBrowse link
Nephrotic Syndrome Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 24 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33232676 NCBI chr 9:11,428,913...11,546,982 JBrowse link
Nephrotic Syndrome Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: LAMA5-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 26 OMIM
ClinVar		 PMID:24130771 PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 More... NCBI chr 3:167,270,296...167,318,370 JBrowse link
nephrotic syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition ClinVar PMID:17086182 PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 More... NCBI chr 1:245,969,179...245,997,761 JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 | ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition OMIM
ClinVar		 PMID:17086182 PMID:18709391 PMID:18975016 PMID:20507940 PMID:20591883 More... NCBI chr 1:236,243,445...236,552,571 JBrowse link
nephrotic syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Nephrotic syndrome, type 4 OMIM
ClinVar		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:112,019,721...112,068,454 JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:8353501 PMID:16479318 PMID:22267502 PMID:24211323 PMID:25218699 More... NCBI chr20:9,708,089...9,732,623 JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities OMIM
ClinVar		 PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chr 8:109,178,367...109,190,552 JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities ClinVar PMID:25741868 PMID:30676711 PMID:32295525 NCBI chr 9:14,270,364...14,300,396 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 6:122,756,106...122,764,544 JBrowse link
nephrotic syndrome type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 6 | ClinVar Annotator: match by term: PTPRO-related condition OMIM
ClinVar		 PMID:21722858 PMID:25741868 PMID:28492532 NCBI chr 4:171,895,104...172,105,911 JBrowse link
nephrotic syndrome type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 ClinVar
OMIM		 PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 More... NCBI chr10:74,348,931...74,374,509 JBrowse link
nephrotic syndrome type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: ARHGDIA-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 8 OMIM
ClinVar		 PMID:23867502 PMID:25741868 PMID:28492532 NCBI chr10:106,352,858...106,356,347 JBrowse link
nephrotic syndrome type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: COQ8B-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 9 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24270420 PMID:25741868 PMID:28204945 More... NCBI chr 1:91,653,241...91,676,822 JBrowse link
Pierson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:117,859,700...117,866,692 JBrowse link
G C8h3orf62 similar to human chromosome 3 open reading frame 62 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:117,958,583...117,963,137 JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,146,650...109,161,749 JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,131,138...109,140,784 JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:117,769,517...117,834,347 JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More... NCBI chr 6:123,627,529...123,692,278 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:117,905,462...117,906,588 JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,091,134...109,126,386 JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,141,594...109,146,584 JBrowse link
G Lamb2 laminin subunit beta 2 ISO
ISS		 ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome
OMIM:609049
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More... RGD:7207425, RGD:7207425 NCBI chr 8:109,178,367...109,190,552 JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,976,393...108,981,620 JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:117,870,548...117,904,303 JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,988,588...108,992,324 JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:133,229,746...133,247,889 JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,035,402...109,079,382 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 chr10:91,410,129...91,430,246 JBrowse link
G Acmsd aminocarboxymuconate semialdehyde decarboxylase IDA RGD PMID:16711654 RGD:13831123 NCBI chr13:39,200,412...39,245,954 JBrowse link
G Actr2 actin related protein 2 IEP mRNA, protein:increased expression:cortex of kidney (rat) RGD PMID:19617259 RGD:11530057 NCBI chr14:98,500,119...98,535,092 JBrowse link
G Agt angiotensinogen IEP RGD PMID:8446257 RGD:11039400 NCBI chr19:69,426,540...69,447,017 JBrowse link
G Apoe apolipoprotein E IEP RGD PMID:8413767 RGD:11040583 NCBI chr 1:88,481,889...88,485,816 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 chr10:105,721,371...105,788,549 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 1:241,212,155...241,245,774 JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP mRNA:increased expression:renal glomerulus (rat) RGD PMID:9175058 RGD:4144855 NCBI chr19:30,327,643...30,355,856 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin IEP mRNA, protein:altered expression:glomerulus (rat) RGD PMID:21876538 RGD:38599163 NCBI chr 1:85,720,812...85,749,079 JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 IEP RGD PMID:20071462 RGD:9835041 NCBI chr11:82,212,896...82,273,803 JBrowse link
G Ren renin IEP RGD PMID:8446257 RGD:11039400 NCBI chr13:47,348,312...47,359,539 JBrowse link
G Xdh xanthine dehydrogenase treatment IEP RGD PMID:26121320 RGD:13208956 NCBI chr 6:21,530,463...21,592,172 JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
OMIM:242900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... RGD:1599053 NCBI chr 9:74,239,718...74,286,156 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Urological Manifestations 626
          proteinuria 588
            nephrosis 292
              Daentl Towsend Siegel Syndrome 0
              Deafness, Nephritis, Anorectal Malformation 0
              Forsythe-Wakeling Syndrome 0
              Galloway-Mowat syndrome + 13
              Nephrosialidosis 0
              Nephrosis with Deafness and Urinary Tract and Digital Malformations 0
              Pulmonic Stenosis and Congenital Nephrosis 0
              Puromycin Aminonucleoside Nephrosis 12
              hypoparathyroidism-deafness-renal disease syndrome 71
              lipoid nephrosis 7
              nephrotic syndrome + 174
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Urogenital Diseases 5391
        urinary system disease 2832
          kidney disease 2580
            proteinuria 588
              nephrosis 292
                Daentl Towsend Siegel Syndrome 0
                Deafness, Nephritis, Anorectal Malformation 0
                Forsythe-Wakeling Syndrome 0
                Galloway-Mowat syndrome + 13
                Nephrosialidosis 0
                Nephrosis with Deafness and Urinary Tract and Digital Malformations 0
                Pulmonic Stenosis and Congenital Nephrosis 0
                Puromycin Aminonucleoside Nephrosis 12
                hypoparathyroidism-deafness-renal disease syndrome 71
                lipoid nephrosis 7
                nephrotic syndrome + 174
paths to the root