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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.

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nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3301049 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Angpt1 angiopoietin 1 ISO mRNA, protein:decreased expression:glomerulus RGD PMID:16626513 RGD:1626164 NCBI chrNW_004955417:30,199,508...30,386,695
Ensembl chrNW_004955417:30,198,842...30,386,266 		JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:kidney (rat) RGD PMID:18929864 PMID:18929866 RGD:2314177 RGD:2314178 NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032 		JBrowse link
G Cat catalase ISO mRNA: decreased expression: glomerulus RGD PMID:20685819 RGD:7205671 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO RGD PMID:10867541 RGD:4891422 NCBI chrNW_004955481:9,085,943...9,089,147 JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO RGD PMID:19147991 RGD:2307223 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:19889873 RGD:7248422 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		JBrowse link
G Cd59 CD59 molecule (CD59 blood group) ISO RGD PMID:15843577 RGD:1600482 NCBI chrNW_004955422:12,500,572...12,528,738 JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:19590241 RGD:4891946 NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:19590241 RGD:4891946 NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230 		JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism
Protein:increased expression:glomerulus, podocyte 		CTD
RGD		 PMID:16400006 RGD:1599729 NCBI chrNW_004955458:5,232,979...5,238,513
Ensembl chrNW_004955458:5,232,979...5,238,513 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16418842 NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:glomerulus (rat) 		CTD
RGD		 PMID:7756592 PMID:9175058 RGD:4144855 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7756592 NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358 		JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18541230 RGD:6893577 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517 		JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 RGD PMID:10935639 RGD:1358706 NCBI chrNW_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:22046528 RGD:7240570 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO mRNA,protein:increased expression:kidney: RGD PMID:17213874 RGD:7246891 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Hpse heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16899518 NCBI chrNW_004955474:6,367,467...6,394,395
Ensembl chrNW_004955474:6,367,467...6,394,395 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22582804 RGD:7175170 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chrNW_004955407:41,779,849...41,805,637
Ensembl chrNW_004955407:41,777,777...41,800,201 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO MouseDO NCBI chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		JBrowse link
G LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:1328752 RGD:2307321 NCBI chrNW_004955458:5,472,404...5,477,001
Ensembl chrNW_004955458:5,472,404...5,477,001 		JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO mRNA:decreased expression RGD PMID:16574160 RGD:1599698 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO mRNA:decreased expression:glomerulus RGD PMID:10919857 RGD:1641827 NCBI chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948 		JBrowse link
G Nes nestin ISO mRNA, protein:increased expression:glomerulus
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:16418842 PMID:17637254 RGD:1642072 NCBI chrNW_004955545:2,748,132...2,756,595
Ensembl chrNW_004955545:2,748,078...2,756,301 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279 		JBrowse link
G Nppa natriuretic peptide A ISO protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003 		JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Pdpn podoplanin ISO mRNA, protein:decreased expression:glomerulus RGD PMID:9327748 RGD:632934 NCBI chrNW_004955527:4,183,639...4,215,200 JBrowse link
G Ptpru protein tyrosine phosphatase receptor type U ISO mRNA, protein:decreased expression:glomerulus RGD PMID:17457373 RGD:1642654 NCBI chrNW_004955452:8,223,773...8,296,769
Ensembl chrNW_004955452:8,223,692...8,296,769 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 PMID:6358456 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2273594 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO protein:altered localization:nucleus RGD PMID:19147991 RGD:2307223 NCBI chrNW_004955413:27,271,717...27,326,655
Ensembl chrNW_004955413:27,271,953...27,326,759 		JBrowse link
G Star steroidogenic acute regulatory protein ISO mRNA:decreased expression:ovary RGD PMID:16574160 RGD:1599698 NCBI chrNW_004955463:13,760,089...13,765,245
Ensembl chrNW_004955463:13,760,089...13,765,244 		JBrowse link
G Vim vimentin ISO mRNA,protein:increased expression:podocyte
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:16418842 RGD:6480447 NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502 NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chrNW_004955416:272,127...273,068
Ensembl chrNW_004955416:272,127...273,068 		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 chrNW_004955467:13,277,014...13,332,658
Ensembl chrNW_004955467:13,280,254...13,316,114 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE OMIM
ClinVar		 PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chrNW_004955467:13,151,663...13,169,005
Ensembl chrNW_004955467:13,151,957...13,168,696 		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 chrNW_004955467:13,169,072...13,209,585
Ensembl chrNW_004955467:13,169,063...13,212,269 		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 chrNW_004955467:13,146,527...13,151,109
Ensembl chrNW_004955467:13,146,527...13,151,109 		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 chrNW_004955467:13,221,391...13,239,089
Ensembl chrNW_004955467:13,221,391...13,239,089 		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 chrNW_004955467:13,246,099...13,276,741
Ensembl chrNW_004955467:13,248,599...13,276,718 		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 chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chrNW_004955507:555,570...825,568
Ensembl chrNW_004955507:555,499...825,568 		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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		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 chrNW_004955406:18,717,383...18,859,263
Ensembl chrNW_004955406:18,717,820...18,858,905 		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 chrNW_004955468:2,705,131...2,712,921
Ensembl chrNW_004955468:2,705,554...2,712,711 		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 chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279 		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 chrNW_004955438:15,319,033...15,321,648 JBrowse link
G Lage3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:28106320 PMID:28492532 NCBI chrNW_004955492:8,583,902...8,641,891
Ensembl chrNW_004955492:8,583,869...8,643,433 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 More... NCBI chrNW_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299 		JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570 		JBrowse link
G Tprkb TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955424:11,961,994...11,969,610
Ensembl chrNW_004955424:11,961,994...11,969,610 		JBrowse link
G Wdr4 WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 NCBI chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G Znf592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		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 chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694 		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 chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition ClinVar PMID:28492532 PMID:31481669 NCBI chrNW_004955452:15,579,225...15,580,362
Ensembl chrNW_004955452:15,579,035...15,580,362 		JBrowse link
G Yrdc yrdC N6-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 chrNW_004955452:15,575,421...15,579,186
Ensembl chrNW_004955452:15,575,421...15,579,186 		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 chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		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 chrNW_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299 		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 Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570 		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 chrNW_004955424:11,961,994...11,969,610
Ensembl chrNW_004955424:11,961,994...11,969,610 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277 		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 chrNW_004955458:15,148,773...15,201,717
Ensembl chrNW_004955458:15,149,054...15,201,635 		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 chrNW_004955492:8,583,902...8,641,891
Ensembl chrNW_004955492:8,583,869...8,643,433 		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 chrNW_004955438:15,319,033...15,321,648 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 chrNW_004955429:19,367,352...19,372,358
Ensembl chrNW_004955429:19,371,693...19,372,310 		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 chrNW_004955429:714,843...731,285
Ensembl chrNW_004955429:715,157...731,303 		JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,520,707...22,535,618
Ensembl chrNW_004955421:22,521,284...22,534,873 		JBrowse link
G Arl5b ARF like GTPase 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:9,564,685...9,589,997
Ensembl chrNW_004955429:9,566,411...9,589,997 		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 chrNW_004955421:22,328,393...22,380,656
Ensembl chrNW_004955421:22,327,523...22,349,641 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:24,234,473...24,253,640
Ensembl chrNW_004955421:24,234,413...24,253,640 		JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:20,674,390...20,756,760
Ensembl chrNW_004955429:20,674,392...20,754,634 		JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,287,486...11,296,716
Ensembl chrNW_004955429:11,287,486...11,296,716 		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 chrNW_004955429:9,642,725...9,966,175
Ensembl chrNW_004955429:9,644,053...9,966,175 		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 chrNW_004955462:391,235...819,240
Ensembl chrNW_004955462:391,235...813,598 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:909,300...1,013,927
Ensembl chrNW_004955462:909,300...1,013,927 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:212,090...270,168
Ensembl chrNW_004955462:212,090...274,334 		JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,586,841...19,592,727
Ensembl chrNW_004955429:19,583,041...19,593,792 		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 chrNW_004955421:27,064,497...27,374,850
Ensembl chrNW_004955421:26,992,734...27,374,850 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,789,674...11,038,297
Ensembl chrNW_004955429:10,788,959...11,038,845 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321 		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 chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344 		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 chrNW_004955421:27,712,527...27,731,141
Ensembl chrNW_004955421:27,712,528...27,730,623 		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 chrNW_004955429:19,748,880...19,818,453 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 chrNW_004955429:19,184,886...19,241,987
Ensembl chrNW_004955429:19,114,953...19,241,987 		JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,535,777...22,579,965
Ensembl chrNW_004955421:22,535,777...22,579,965 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,981,599...20,552,700 JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome OMIM
ClinVar		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chrNW_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,449,620...22,480,721
Ensembl chrNW_004955421:22,450,402...22,480,512 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,394,046...10,406,945
Ensembl chrNW_004955429:10,384,708...10,406,945 		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 chrNW_004955429:19,533,586...19,577,834
Ensembl chrNW_004955429:19,533,524...19,578,532 		JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,590,168...22,612,835
Ensembl chrNW_004955421:22,586,012...22,620,788 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,642,004...22,694,729
Ensembl chrNW_004955421:22,641,511...22,694,913 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,932,764...12,120,757
Ensembl chrNW_004955429:11,932,570...12,120,821 		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 chrNW_004955421:24,149,081...24,189,810
Ensembl chrNW_004955421:24,150,526...24,189,810 		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 chrNW_004955421:24,042,405...24,125,085
Ensembl chrNW_004955421:24,043,182...24,125,085 		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 chrNW_004955421:24,196,909...24,234,320 JBrowse link
G LOC102023269 calmodulin-like protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,205,476...22,219,715
Ensembl chrNW_004955421:22,214,339...22,219,715 		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 chrNW_004955462:1,151,163...1,186,601
Ensembl chrNW_004955462:1,153,058...1,188,799 		JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,435,004...19,444,833
Ensembl chrNW_004955429:19,433,900...19,444,360 		JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,805,205...11,890,103
Ensembl chrNW_004955429:11,805,080...11,890,103 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,105,292...22,154,368
Ensembl chrNW_004955421:22,105,257...22,156,292 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,282,568...19,356,322 JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:9,594,964...9,639,614
Ensembl chrNW_004955429:9,594,958...9,639,614 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:190,872...211,975
Ensembl chrNW_004955462:190,999...203,736 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,375,366...19,394,068
Ensembl chrNW_004955429:19,376,190...19,394,119 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269 		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 chrNW_004955421:22,762,290...22,868,677
Ensembl chrNW_004955421:22,848,548...22,866,035 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:1,238,622...1,250,731
Ensembl chrNW_004955462:1,238,622...1,250,736 		JBrowse link
G Prkcq protein kinase C theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:23,072,607...23,151,591
Ensembl chrNW_004955421:23,070,955...23,175,699 		JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:27,809,610...27,823,125 JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:20,581,457...20,613,258
Ensembl chrNW_004955429:20,581,457...20,613,257 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,296,833...11,356,082
Ensembl chrNW_004955429:11,293,644...11,356,239 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:22,732,757...22,745,926
Ensembl chrNW_004955421:22,732,757...22,746,014 		JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,358,765...19,360,973
Ensembl chrNW_004955429:19,358,765...19,360,973 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:11,043,205...11,234,698
Ensembl chrNW_004955429:11,043,040...11,235,758 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955462:166,423...189,592
Ensembl chrNW_004955462:166,423...189,585 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:20,849,526...20,871,074
Ensembl chrNW_004955429:20,847,861...20,871,074 		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 chrNW_004955421:23,691,648...23,913,781 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 chrNW_004955429:10,053,022...10,116,713
Ensembl chrNW_004955429:10,052,968...10,116,727 		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 chrNW_004955429:10,538,660...10,660,493
Ensembl chrNW_004955429:10,538,661...10,658,008 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,306,957...10,366,072
Ensembl chrNW_004955429:10,306,957...10,366,081 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:19,503,197...19,526,454
Ensembl chrNW_004955429:19,503,197...19,528,027 		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 chrNW_004955421:24,263,395...24,414,472 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 chrNW_004955421:22,381,295...22,448,115
Ensembl chrNW_004955421:22,401,983...22,447,453 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,741,512...10,774,268
Ensembl chrNW_004955429:10,742,097...10,771,877 		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 chrNW_004955462:1,195,738...1,204,255
Ensembl chrNW_004955462:1,195,608...1,204,266 		JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955463:218,456...218,959 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 chrNW_004955421:27,867,663...27,962,809
Ensembl chrNW_004955421:27,861,958...27,952,835 		JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955421:27,469,652...27,593,771
Ensembl chrNW_004955421:27,471,483...27,593,775 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554 		JBrowse link
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar		 PMID:16199547 PMID:22512483 PMID:24088041 PMID:24220332 PMID:25741868 More... NCBI chrNW_004955451:11,563,120...11,590,119
Ensembl chrNW_004955451:11,561,704...11,589,727 		JBrowse link
lipoid nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:24119646 RGD:10043363 NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:17429054 RGD:2290347 NCBI chrNW_004955408:4,046,406...4,049,795 JBrowse link
G Il17a interleukin 17A ISO Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962 		JBrowse link
G Lgals1 galectin 1 ISO protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chrNW_004955413:24,072,086...24,075,452
Ensembl chrNW_004955413:24,072,086...24,075,452 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Lipoid nephrosis ClinVar PMID:23687361 PMID:32581362 NCBI chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 no_association
severity 		ISO DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
DNA:polymorphism:3' utr:2964G>A (human)
DNA:polymorphism:3' utr:g.2964G>A (human) 		RGD PMID:12900808 PMID:15687724 PMID:19011907 RGD:7244138 RGD:7244144 RGD:7244146 NCBI chrNW_004955458:4,833,417...4,847,956
Ensembl chrNW_004955458:4,833,515...4,843,273 		JBrowse link
nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO protein:increased expression:kidney (rat) RGD PMID:19147991 RGD:2307223 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806 		JBrowse link
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:770,573...841,859
Ensembl chrNW_004955468:770,573...842,209 		JBrowse link
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10453743 PMID:15110324 PMID:15327387 PMID:15464418 PMID:17495019 More... NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:1556257 PMID:17178036 PMID:22203175 RGD:11036090 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Alms1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955424:12,130,496...12,258,684
Ensembl chrNW_004955424:12,130,607...12,258,522 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:19194550 RGD:2317535 NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909 		JBrowse link
G Anln anillin actin binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955460:6,972,077...7,033,900
Ensembl chrNW_004955460:6,947,508...7,033,669 		JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:18614621 RGD:2313652 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chrNW_004955555:2,019,547...2,021,543
Ensembl chrNW_004955555:2,016,217...2,021,830 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004955474:3,786,264...4,224,778
Ensembl chrNW_004955474:3,786,264...4,224,778 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chrNW_004955506:1,297,604...1,300,072
Ensembl chrNW_004955506:1,297,956...1,300,072 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134 		JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chrNW_004955458:5,499,392...5,523,463
Ensembl chrNW_004955458:5,499,652...5,520,137 		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 chrNW_004955406:18,717,383...18,859,263
Ensembl chrNW_004955406:18,717,820...18,858,905 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chrNW_004955545:2,381,091...2,382,114
Ensembl chrNW_004955545:2,381,156...2,381,978 		JBrowse link
G Cd2 CD2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chrNW_004955435:19,861,658...19,876,383
Ensembl chrNW_004955435:19,861,527...19,873,581 		JBrowse link
G Cfi complement factor I disease_progression ISO RGD PMID:9745775 RGD:108019049 NCBI chrNW_004955496:492,217...553,398
Ensembl chrNW_004955496:492,167...553,217 		JBrowse link
G Cfl1 cofilin 1 treatment ISO RGD PMID:24737737 RGD:11570418 NCBI chrNW_004955422:19,479,181...19,482,571
Ensembl chrNW_004955422:19,479,181...19,482,571 		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 chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352 		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 chrNW_004955478:19,558...38,905
Ensembl chrNW_004955478:19,386...39,433 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chrNW_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079 		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 chrNW_004955453:7,261,278...7,351,414 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 chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200 		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 chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887 		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 chrNW_004955474:6,403,409...6,422,135 JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33532864 NCBI chrNW_004955578:615,820...635,488
Ensembl chrNW_004955578:615,381...635,488 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539 		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 chrNW_004955467:13,151,663...13,169,005
Ensembl chrNW_004955467:13,151,957...13,168,696 		JBrowse link
G Ddc dopa decarboxylase ISO protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911 		JBrowse link
G Ddx53 DEAD-box helicase 53 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004955509:3,352,639...3,354,949 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chrNW_004955454:2,933,904...2,944,675
Ensembl chrNW_004955454:2,934,152...2,944,492 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23274426 PMID:23542698 PMID:25349199 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955451:5,966,773...5,988,004
Ensembl chrNW_004955451:5,969,070...5,988,004 		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 chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34783119 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Ednra endothelin receptor type A ISO mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23128049 RGD:11041725 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26905694 PMID:28492532 NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441931 NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO RGD PMID:18614621 RGD:2313652 NCBI chrNW_004955431:17,291,890...17,363,611
Ensembl chrNW_004955431:17,291,270...17,363,714 		JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chrNW_004955404:16,824,366...18,091,464
Ensembl chrNW_004955404:16,827,833...18,091,256 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO mRNA:increased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:plasma
mRNA:decreased expression:kidney 		RGD PMID:12824952 PMID:20685819 RGD:1625122 RGD:7205671 NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO mRNA:decreased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chrNW_004955495:6,767,969...6,772,256
Ensembl chrNW_004955495:6,767,975...6,772,178 		JBrowse link
G Guca2b guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chrNW_004955537:1,798,249...1,801,673
Ensembl chrNW_004955537:1,798,249...1,801,673 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356 		JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO RGD PMID:11248742 RGD:12910863 NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115 		JBrowse link
G Il1b interleukin 1 beta severity ISO associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)
protein:increased expression:serum (human) 		RGD PMID:14760799 PMID:21103916 PMID:21359962 RGD:7175324 RGD:7175337 RGD:7175339 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		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 chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265 		JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:24812565 RGD:10402803 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22665336 RGD:7240715 NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29127259 NCBI chrNW_004955538:3,154,670...3,176,510
Ensembl chrNW_004955538:3,163,940...3,178,832 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:22512483 PMID:29127259 NCBI chrNW_004955451:11,563,120...11,590,119
Ensembl chrNW_004955451:11,561,704...11,589,727 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29773874 NCBI chrNW_004955407:33,056,004...33,275,681
Ensembl chrNW_004955407:33,113,319...33,275,675 		JBrowse link
G Itsn2 intersectin 2 ISO MouseDO NCBI chrNW_004955469:6,358,131...6,493,956
Ensembl chrNW_004955469:6,358,131...6,493,956 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208 		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 chrNW_004955423:27,328,795...27,363,484
Ensembl chrNW_004955423:27,328,634...27,366,506 		JBrowse link
G Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO RGD PMID:21606114 RGD:7244390 NCBI chrNW_004955412:29,801,022...29,832,153
Ensembl chrNW_004955412:29,801,022...29,829,674 		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 chrNW_004955468:2,705,131...2,712,921
Ensembl chrNW_004955468:2,705,554...2,712,711 		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 chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116 		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 chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		JBrowse link
G Lipc lipase C, hepatic type ISO protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766 		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 chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375 		JBrowse link
G LOC102021956 alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum 		CTD
RGD		 PMID:9453001 PMID:11304663 RGD:10046046 NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529 		JBrowse link
G LOC102027549 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chrNW_004955469:9,279,540...9,292,012
Ensembl chrNW_004955469:9,279,540...9,291,954 		JBrowse link
G Mxra5 matrix remodeling associated 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004955499:1,947,337...1,976,847
Ensembl chrNW_004955499:1,947,220...1,976,861 		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 chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29127259 NCBI chrNW_004955450:15,421,843...15,551,680
Ensembl chrNW_004955450:15,456,580...15,551,584 		JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004955501:1,867,956...1,963,091 JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004955470:10,487,962...10,593,046
Ensembl chrNW_004955470:10,487,481...10,593,046 		JBrowse link
G Nfkbia NFKB inhibitor alpha exacerbates ISO protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:17441336 RGD:127285019 NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520 		JBrowse link
G Noc3l NOC3 like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004955507:827,994...858,941
Ensembl chrNW_004955507:828,157...859,655 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
mRNA,protein:decreased expression:podocyte (mouse) 		RGD
MouseDO		 PMID:15942045 PMID:22493483 RGD:1598707 RGD:38599005 NCBI chrNW_004955468:2,715,728...2,734,174
Ensembl chrNW_004955468:2,714,419...2,734,830 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin treatment ISO ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome RGD
ClinVar		 PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... RGD:1598707 NCBI chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 treatment ISO RGD PMID:15833166 RGD:7174719 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221 		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 chrNW_004955433:14,408,079...14,533,292
Ensembl chrNW_004955433:14,407,962...14,535,500 		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 chrNW_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607 		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 chrNW_004955411:32,426,604...32,714,337
Ensembl chrNW_004955411:32,422,513...32,714,062 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased activity:plasma RGD PMID:8692015 PMID:15292677 RGD:7248795 RGD:7257517 NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996 		JBrowse link
G Plce1 phospholipase C epsilon 1 onset ISO DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome 		RGD
ClinVar		 PMID:17086182 PMID:25741868 PMID:28492532 PMID:29127259 RGD:7257519 NCBI chrNW_004955507:555,570...825,568
Ensembl chrNW_004955507:555,499...825,568 		JBrowse link
G Podxl podocalyxin like ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29244787 PMID:30523047 NCBI chrNW_004955410:36,191,797...36,239,970 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19194550 RGD:2317535 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chrNW_004955437:10,598,145...10,885,858
Ensembl chrNW_004955437:10,598,145...10,800,560 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO RGD PMID:15075188 RGD:1624161 NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO RGD PMID:15075188 RGD:1624161 NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303 		JBrowse link
G Serpinc1 serpin family C member 1 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:7532794 PMID:8979144 PMID:11304663 RGD:11035294 RGD:11038563 NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948 		JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		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 chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171 		JBrowse link
G Slc35f1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chrNW_004955436:1,096,156...1,312,183
Ensembl chrNW_004955436:1,182,392...1,312,183 		JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17803470 RGD:1643224 NCBI chrNW_004955428:1,357,398...1,429,521
Ensembl chrNW_004955428:1,361,085...1,429,948 		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 chrNW_004955453:16,724,286...16,784,129
Ensembl chrNW_004955453:16,719,931...16,784,709 		JBrowse link
G Soat2 sterol O-acyltransferase 2 ISO mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chrNW_004955458:383,123...394,003
Ensembl chrNW_004955458:382,892...394,749 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9152291 RGD:11035285 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Synpo synaptopodin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33615071 NCBI chrNW_004955415:3,929,781...3,977,769
Ensembl chrNW_004955415:3,932,192...3,990,022 		JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:31732614 NCBI chrNW_004955490:9,195,294...9,277,858
Ensembl chrNW_004955490:9,193,716...9,283,385 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chrNW_004955403:10,925,155...11,004,229
Ensembl chrNW_004955403:10,924,893...11,004,284 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 PMID:8023968 PMID:10515446 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894 		JBrowse link
G Tns2 tensin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29773874 NCBI chrNW_004955458:333,104...347,399
Ensembl chrNW_004955458:333,985...346,927 		JBrowse link
G Tprkb TP53RK binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28805828 PMID:29127259 NCBI chrNW_004955424:11,961,994...11,969,610
Ensembl chrNW_004955424:11,961,994...11,969,610 		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 chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		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 chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103 		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 chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		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 chrNW_004955442:865,292...921,739
Ensembl chrNW_004955442:865,238...922,221 		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 chrNW_004955442:12,476,055...12,487,613 JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chrNW_004955506:1,297,604...1,300,072
Ensembl chrNW_004955506:1,297,956...1,300,072 		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 chrNW_004955406:18,717,383...18,859,263
Ensembl chrNW_004955406:18,717,820...18,858,905 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition ClinVar PMID:9536098 PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 More... NCBI chrNW_004955468:2,705,131...2,712,921
Ensembl chrNW_004955468:2,705,554...2,712,711 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chrNW_004955468:2,715,728...2,734,174
Ensembl chrNW_004955468:2,714,419...2,734,830 		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 chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chrNW_004955507:555,570...825,568
Ensembl chrNW_004955507:555,499...825,568 		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 chrNW_004955407:3,514,900...3,566,165
Ensembl chrNW_004955407:3,535,388...3,565,058 		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 chrNW_004955415:6,328,672...6,378,611
Ensembl chrNW_004955415:6,371,059...6,378,529 		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 chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562 		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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		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 chrNW_004955442:7,826,967...7,862,035
Ensembl chrNW_004955442:7,826,738...7,860,028 		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 chrNW_004955458:15,148,773...15,201,717
Ensembl chrNW_004955458:15,149,054...15,201,635 		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 chrNW_004955445:2,154,057...2,235,594
Ensembl chrNW_004955445:2,153,170...2,235,795 		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 chrNW_004955433:14,408,079...14,533,292
Ensembl chrNW_004955433:14,407,962...14,535,500 		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 chrNW_004955494:7,084,150...7,148,264
Ensembl chrNW_004955494:7,084,014...7,148,609 		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 chrNW_004955437:20,489,641...20,547,105
Ensembl chrNW_004955437:20,488,330...20,547,171 		JBrowse link
nephrotic syndrome type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chrNW_004955410:6,739,115...7,295,027
Ensembl chrNW_004955410:6,400,242...7,294,924 		JBrowse link
nephrotic syndrome type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chrNW_004955495:2,168,992...2,173,581 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 chrNW_004955553:2,103,694...2,124,748
Ensembl chrNW_004955553:2,108,379...2,124,748 		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 PMID:39949197 NCBI chrNW_004955553:2,079,418...2,107,894
Ensembl chrNW_004955553:2,079,503...2,107,807 		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 chrNW_004955492:8,583,902...8,641,891
Ensembl chrNW_004955492:8,583,869...8,643,433 		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 chrNW_004955422:561,339...598,598
Ensembl chrNW_004955422:561,339...599,575 		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 chrNW_004955428:18,873,782...18,907,955
Ensembl chrNW_004955428:18,873,782...18,907,955 		JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chrNW_004955458:5,499,392...5,523,463
Ensembl chrNW_004955458:5,499,652...5,520,137 		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 chrNW_004955406:18,717,383...18,859,263
Ensembl chrNW_004955406:18,717,820...18,858,905 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chrNW_004955453:7,261,278...7,351,414 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 chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887 		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 chrNW_004955419:4,604,883...4,626,675
Ensembl chrNW_004955419:4,607,507...4,626,608 		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 chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome OMIM
ClinVar		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279 		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 chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221 		JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004955494:7,084,150...7,148,264
Ensembl chrNW_004955494:7,084,014...7,148,609 		JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004955433:14,408,079...14,533,292
Ensembl chrNW_004955433:14,407,962...14,535,500 		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 chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607 		JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chrNW_004955507:555,570...825,568
Ensembl chrNW_004955507:555,499...825,568 		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 chrNW_004955453:16,724,286...16,784,129
Ensembl chrNW_004955453:16,719,931...16,784,709 		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 chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		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 chrNW_004955458:5,489,551...5,498,572
Ensembl chrNW_004955458:5,489,630...5,498,723 		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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396 		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 PMID:34858901 More... NCBI chrNW_004955490:9,195,294...9,277,858
Ensembl chrNW_004955490:9,193,716...9,283,385 		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 chrNW_004955458:5,499,392...5,523,463
Ensembl chrNW_004955458:5,499,652...5,520,137 		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 chrNW_004955458:5,489,551...5,498,572
Ensembl chrNW_004955458:5,489,630...5,498,723 		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 chrNW_004955468:9,820,649...9,919,958
Ensembl chrNW_004955468:9,821,303...9,916,667 		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 chrNW_004955437:6,728,703...6,839,903
Ensembl chrNW_004955437:6,728,523...6,839,903 		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 chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116 		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 chrNW_004955507:827,994...858,941
Ensembl chrNW_004955507:828,157...859,655 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 | ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17086182 PMID:17576681 PMID:18065803 PMID:18709391 More... NCBI chrNW_004955507:555,570...825,568
Ensembl chrNW_004955507:555,499...825,568 		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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities OMIM
ClinVar		 PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		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 chrNW_004955437:8,968,517...8,987,680
Ensembl chrNW_004955437:8,968,565...8,986,654 		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 chrNW_004955438:16,335,201...16,345,093
Ensembl chrNW_004955438:16,335,544...16,345,094 		JBrowse link
nephrotic syndrome type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpro protein tyrosine phosphatase receptor type O ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 6 | ClinVar Annotator: match by term: PTPRO-related condition OMIM
ClinVar		 PMID:21722858 PMID:25741868 PMID:28106320 PMID:28492532 NCBI chrNW_004955413:12,019,026...12,248,026
Ensembl chrNW_004955413:12,018,888...12,248,807 		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: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 | 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 chrNW_004955451:5,966,773...5,988,004
Ensembl chrNW_004955451:5,969,070...5,988,004 		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 chrNW_004955506:1,297,604...1,300,072
Ensembl chrNW_004955506:1,297,956...1,300,072 		JBrowse link
nephrotic syndrome type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: COQ8B-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 9 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24270420 PMID:25741868 More... NCBI chrNW_004955578:615,820...635,488
Ensembl chrNW_004955578:615,381...635,488 		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 chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME ClinVar PMID:28492532 NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,150,053...1,153,965
Ensembl chrNW_004955532:1,150,321...1,154,112 		JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,163,399...1,172,197
Ensembl chrNW_004955532:1,163,353...1,198,237 		JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,243,732...1,245,499 JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		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 chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,198,316...1,226,875 JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,158,888...1,162,710
Ensembl chrNW_004955532:1,158,162...1,163,305 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome 		OMIM
ClinVar		 PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More... NCBI chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,358,251...1,363,481
Ensembl chrNW_004955532:1,358,251...1,363,470 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451 		JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,347,639...1,349,864
Ensembl chrNW_004955532:1,347,639...1,349,864 		JBrowse link
G Tns2 tensin 2 ISO OMIM:609049 MouseDO NCBI chrNW_004955458:333,104...347,399
Ensembl chrNW_004955458:333,985...346,927 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chrNW_004955532:1,247,110...1,284,564
Ensembl chrNW_004955532:1,247,110...1,285,121 		JBrowse link
Puromycin Aminonucleoside Nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acmsd aminocarboxymuconate semialdehyde decarboxylase ISO RGD PMID:16711654 RGD:13831123 NCBI chrNW_004955440:2,348,434...2,412,706
Ensembl chrNW_004955440:2,348,396...2,412,706 		JBrowse link
G Actr2 actin related protein 2 ISO mRNA, protein:increased expression:cortex of kidney (rat) RGD PMID:19617259 RGD:11530057 NCBI chrNW_004955424:19,293,949...19,333,170
Ensembl chrNW_004955424:19,293,949...19,333,170 		JBrowse link
G Agt angiotensinogen ISO RGD PMID:8446257 RGD:11039400 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:8413767 RGD:11040583 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Baiap2 BAR/IMD domain containing adaptor protein 2 ISO protein:increased expression:glomerular visceral epithelial cell RGD PMID:17569780 RGD:9684990 NCBI chrNW_004955506:1,868,624...1,936,786
Ensembl chrNW_004955506:1,868,624...1,936,786 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:renal glomerulus, renal interstitium, renal tubule RGD PMID:16152783 RGD:1600352 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO mRNA:increased expression:renal glomerulus (rat) RGD PMID:9175058 RGD:4144855 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO mRNA, protein:altered expression:glomerulus (rat) RGD PMID:21876538 RGD:38599163 NCBI chrNW_004955468:2,715,728...2,734,174
Ensembl chrNW_004955468:2,714,419...2,734,830 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO RGD PMID:20071462 RGD:9835041 NCBI chrNW_004955420:12,893,760...12,930,955
Ensembl chrNW_004955420:12,892,845...12,930,955 		JBrowse link
G Ren renin ISO RGD PMID:8446257 RGD:11039400 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia OMIM
ClinVar		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... NCBI chrNW_004955453:16,724,286...16,784,129
Ensembl chrNW_004955453:16,719,931...16,784,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    Pathological Conditions, Signs and Symptoms 11317
      Signs and Symptoms 9520
        Urological Manifestations 387
          proteinuria 360
            nephrosis 277
              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 10
              hypoparathyroidism-deafness-renal disease syndrome 66
              lipoid nephrosis 7
              nephrotic syndrome + 169
Path 2
Term Annotations click to browse term
  disease 14341
    disease of anatomical entity 14034
      Urogenital Diseases 4572
        urinary system disease 2238
          kidney disease 2018
            proteinuria 360
              nephrosis 277
                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 10
                hypoparathyroidism-deafness-renal disease syndrome 66
                lipoid nephrosis 7
                nephrotic syndrome + 169
paths to the root