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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:nephrosis
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Accession:DOID:2527 term browser browse the term
Definition:A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. (DO)
Synonyms:exact_synonym: nephroses
 primary_id: MESH:D009401
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO protein:increased activity:multiple (rats)
Adriamycin Nephrosis		 RGD PMID:8303709 PMID:8665777 RGD:8157608, RGD:12879388 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:2046802 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:3301049 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ANGPT1 angiopoietin 1 ISO mRNA, protein:decreased expression:glomerulus RGD PMID:16626513 RGD:1626164 NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055 		JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:kidney (rat) RGD PMID:18929864 PMID:18929866 RGD:2314178, RGD:2314177 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G CAT catalase IEP mRNA: decreased expression: glomerulus RGD PMID:20685819 RGD:7205671 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 ISO RGD PMID:10867541 RGD:4891422 NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233 		JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO RGD PMID:10867541 RGD:4891422 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:19147991 RGD:2307223 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:19889873 RGD:7248422 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) ISO RGD PMID:15843577 RGD:1600482 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479 		JBrowse link
G CFH complement factor H ISO protein:altered expression:kidney: RGD PMID:22815489 RGD:7364901 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:19590241 RGD:4891946 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:19590241 RGD:4891946 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO mRNA:decreased expression RGD PMID:16574160 RGD:1599698 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:1328752 RGD:2307321 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP3A43 cytochrome P450 family 3 subfamily A member 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr 7:99,828,013...99,866,093
Ensembl chr 7:99,828,013...99,866,093 		JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr 7:99,648,194...99,679,996
Ensembl chr 7:99,648,194...99,679,996 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO
EXP		 Protein:increased expression:glomerulus, podocyte
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16400006 PMID:16400006 RGD:1599729 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737 		JBrowse link
G DES desmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16418842 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G EDN1 endothelin 1 ISO
EXP		 mRNA:increased expression:glomerulus (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7756592 PMID:9175058 RGD:4144855 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EDNRB endothelin receptor type B EXP CTD Direct Evidence: marker/mechanism CTD PMID:7756592 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G F2 coagulation factor II, thrombin ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18541230 PMID:18541230 RGD:6893577 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G GATA3 GATA binding protein 3 IAGP HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 RGD PMID:10935639 RGD:1358706 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GPX1 glutathione peroxidase 1 IEP RGD PMID:22046528 RGD:7240570 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO mRNA,protein:increased expression:kidney: RGD PMID:17213874 RGD:7246891 NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396 		JBrowse link
G HPSE heparanase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16899518 NCBI chr 4:83,292,461...83,335,153
Ensembl chr 4:83,292,461...83,335,153 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22582804 RGD:7175170 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G ITGB2 integrin subunit beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G LAMB2 laminin subunit beta 2 ISS MouseDO NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO mRNA:decreased expression:glomerulus RGD PMID:10919857 RGD:1641827 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G NES nestin ISO
EXP		 mRNA, protein:increased expression:glomerulus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16418842 PMID:17637254 RGD:1642072 NCBI chr 1:156,668,763...156,677,407
Ensembl chr 1:156,668,763...156,677,407 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NPPA natriuretic peptide A ISO protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NPPB natriuretic peptide B ISO protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945 		JBrowse link
G PDPN podoplanin ISO mRNA, protein:decreased expression:glomerulus RGD PMID:9327748 RGD:632934 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PTPRU protein tyrosine phosphatase receptor type U ISO mRNA, protein:decreased expression:glomerulus RGD PMID:17457373 RGD:1642654 NCBI chr 1:29,236,522...29,326,800
Ensembl chr 1:29,236,516...29,326,813 		JBrowse link
G REN renin EXP CTD Direct Evidence: marker/mechanism CTD PMID:2046802 PMID:6358456 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:2273594 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO protein:altered localization:nucleus RGD PMID:19147991 RGD:2307223 NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,105...41,907,306 		JBrowse link
G STAR steroidogenic acute regulatory protein ISO mRNA:decreased expression:ovary RGD PMID:16574160 RGD:1599698 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G VIM vimentin ISO
EXP		 mRNA,protein:increased expression:podocyte
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16418842 PMID:16418842 RGD:6480447 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		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 IAGP ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		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 IAGP ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 ISO protein:decreased activity:kidney (mouse) RGD PMID:11014984 RGD:7207147 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		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 IAGP 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 chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP
EXP		 ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CTNS-AS1 CTNS antisense RNA 1 IAGP ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9536098 PMID:9537412 PMID:9792862 PMID:10482956 PMID:10556299 More... NCBI chr17:3,652,550...3,658,015 JBrowse link
G LOC126862464 MED14-independent group 3 enhancer GRCh37_chr17:3526895-3528094 IAGP ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr17:3,623,601...3,624,800 JBrowse link
G LOC130059979 ATAC-STARR-seq lymphoblastoid silent region 8014 IAGP ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr17:3,635,966...3,636,025 JBrowse link
G LOC130059980 ATAC-STARR-seq lymphoblastoid active region 11511 IAGP ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr17:3,636,506...3,636,755 JBrowse link
G LOC130059981 ATAC-STARR-seq lymphoblastoid silent region 8015 IAGP ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr17:3,637,036...3,637,125 JBrowse link
G SHPK sedoheptulokinase IAGP 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 chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250 		JBrowse link
G TAX1BP3 Tax1 binding protein 3 IAGP 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 chr17:3,662,895...3,668,578
Ensembl chr17:3,662,895...3,668,679 		JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 IAGP 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 chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP 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 chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		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 IAGP ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25514610 PMID:25741868 PMID:28492532 PMID:28632965 NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G LAMB2 laminin subunit beta 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse mesangial sclerosis		 CTD
ClinVar		 PMID:15367484 PMID:25741868 PMID:28492532 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis ClinVar PMID:15266301 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:32,430,169...32,437,423 JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G WT1 WT1 transcription factor IAGP 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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		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 IAGP ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735 		JBrowse link
G KIRREL2 kirre like nephrin family adhesion molecule 2 IAGP ClinVar Annotator: match by term: Congenital nephrotic syndrome ClinVar PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 More... NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital nephrotic syndrome
ClinVar Annotator: match by term: Familial nephrotic syndrome		 CTD
ClinVar		 PMID:9915943 PMID:10652016 PMID:10792613 PMID:11012881 PMID:11317351 More... NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin IAGP ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:15954915 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G LAGE3 L antigen family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G TP53RK TP53 regulating kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TPRKB TP53RK binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR73 WD repeat domain 73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G ZNF592 zinc finger protein 592 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445 		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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G WDR73 WD repeat domain 73 IAGP 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 chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G ZNF592 zinc finger protein 592 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf122 chromosome 1 open reading frame 122 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 1:37,807,790...37,809,454
Ensembl chr 1:37,806,979...37,809,454 		JBrowse link
G LOC129930167 ATAC-STARR-seq lymphoblastoid silent region 680 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked ClinVar
OMIM		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LOC130068876 ATAC-STARR-seq lymphoblastoid silent region 21109 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked ClinVar PMID:25741868 PMID:28805828 NCBI chr  X:154,478,675...154,478,894 JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107372315 OSGEP/APEX1 bi-directional promoter region IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 PMID:33532864 More... NCBI chr14:20,451,644...20,455,489 JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		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 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		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 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,075,475...15,088,776
Ensembl chr10:15,075,475...15,088,776 		JBrowse link
G AKR1C1 aldo-keto reductase family 1 member C1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:4,963,415...4,983,283
Ensembl chr10:4,963,253...4,983,283 		JBrowse link
G AKR1C2 aldo-keto reductase family 1 member C2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031 		JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686 		JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949 		JBrowse link
G AKR1E2 aldo-keto reductase family 1 member E2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:4,824,973...4,873,237
Ensembl chr10:4,786,629...4,848,062 		JBrowse link
G ANKRD16 ankyrin repeat domain 16 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,861,616...5,889,893
Ensembl chr10:5,861,616...5,889,906 		JBrowse link
G ARL5B ADP ribosylation factor like GTPase 5B IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:18,659,431...18,681,639
Ensembl chr10:18,659,431...18,681,639 		JBrowse link
G ASB13 ankyrin repeat and SOCS box containing 13 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,638,867...5,666,595
Ensembl chr10:5,638,867...5,666,595 		JBrowse link
G ATP5F1C ATP synthase F1 subunit gamma IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,788,177...7,807,801
Ensembl chr10:7,788,147...7,807,815 		JBrowse link
G BEND7 BEN domain containing 7 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,438,481...13,529,634
Ensembl chr10:13,438,484...13,529,014 		JBrowse link
G C1QL3 complement C1q like 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,513,734...16,521,879
Ensembl chr10:16,513,734...16,521,879 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557 		JBrowse link
G CALML3 calmodulin like 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,524,961...5,526,771
Ensembl chr10:5,524,961...5,526,771 		JBrowse link
G CALML3-AS1 CALML3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,514,244...5,526,246
Ensembl chr10:5,510,036...5,526,246 		JBrowse link
G CALML5 calmodulin like 5 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,498,697...5,499,570
Ensembl chr10:5,498,697...5,499,570 		JBrowse link
G CAMK1D calcium/calmodulin dependent protein kinase ID IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,349,547...12,835,545
Ensembl chr10:12,349,547...12,835,545 		JBrowse link
G CCDC3 coiled-coil domain containing 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,896,625...13,099,989
Ensembl chr10:12,896,625...13,099,652 		JBrowse link
G CDC123 cell division cycle 123 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,196,188...12,250,589
Ensembl chr10:12,195,965...12,250,589 		JBrowse link
G CDNF cerebral dopamine neurotrophic factor IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,819,245...14,838,037
Ensembl chr10:14,819,245...14,838,575 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CUBN cubilin IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221 		JBrowse link
G ECHDC3 enoyl-CoA hydratase domain containing 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,742,382...11,764,070
Ensembl chr10:11,742,366...11,764,070 		JBrowse link
G FAM107B family with sequence similarity 107 member B IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,518,557...14,774,897
Ensembl chr10:14,518,557...14,774,897 		JBrowse link
G FAM171A1 family with sequence similarity 171 member A1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,211,643...15,374,554
Ensembl chr10:15,211,643...15,371,289 		JBrowse link
G FBH1 F-box DNA helicase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,889,572...5,937,593
Ensembl chr10:5,890,203...5,937,594 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142 		JBrowse link
G GATA3 GATA binding protein 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
OMIM:146255
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GDI2 GDP dissociation inhibitor 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,765,223...5,813,434
Ensembl chr10:5,765,223...5,842,132 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HSPA14 heat shock protein family A (Hsp70) member 14 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,838,306...14,871,741
Ensembl chr10:14,838,306...14,871,741 		JBrowse link
G IL15RA interleukin 15 receptor subunit alpha IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,948,900...5,978,741
Ensembl chr10:5,943,639...5,978,187 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922 		JBrowse link
G ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,703,316...7,749,520
Ensembl chr10:7,703,316...7,749,520 		JBrowse link
G ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,559,270...7,666,966
Ensembl chr10:7,559,270...7,666,998 		JBrowse link
G KIN Kin17 DNA and RNA binding protein IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,750,962...7,787,993
Ensembl chr10:7,750,962...7,787,993 		JBrowse link
G LOC130003278 ATAC-STARR-seq lymphoblastoid silent region 2118 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:8,055,838...8,055,917 JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110 		JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,954,228...14,988,050
Ensembl chr10:14,959,388...14,988,050 		JBrowse link
G MINDY3 MINDY lysine 48 deubiquitinase 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,778,174...15,860,507
Ensembl chr10:15,778,170...15,860,507 		JBrowse link
G NET1 neuroepithelial cell transforming 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,412,557...5,459,056
Ensembl chr10:5,412,557...5,459,056 		JBrowse link
G NMT2 N-myristoyltransferase 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,105,700...15,168,693
Ensembl chr10:15,102,584...15,168,693 		JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:18,545,561...18,659,327
Ensembl chr10:18,545,561...18,659,285 		JBrowse link
G NUDT5 nudix hydrolase 5 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,165,330...12,195,891
Ensembl chr10:12,165,330...12,195,891 		JBrowse link
G OLAH oleoyl-ACP hydrolase IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,032,195...15,073,853
Ensembl chr10:15,032,227...15,073,853 		JBrowse link
G OPTN optineurin IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,144,921...6,326,637
Ensembl chr10:6,144,934...6,254,644 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PRKCQ protein kinase C theta IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,394,097...6,580,646
Ensembl chr10:6,427,143...6,580,301 		JBrowse link
G PROSER2 proline and serine rich 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,823,356...11,872,277
Ensembl chr10:11,823,339...11,872,277 		JBrowse link
G PRPF18 pre-mRNA processing factor 18 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,586,965...13,655,929
Ensembl chr10:13,586,939...13,668,445 		JBrowse link
G PTER phosphotriesterase related IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,437,010...16,519,020
Ensembl chr10:16,436,943...16,513,745 		JBrowse link
G RBM17 RNA binding motif protein 17 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,089,034...6,117,447
Ensembl chr10:6,089,034...6,117,457 		JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,097,355...15,104,257
Ensembl chr10:15,097,180...15,139,818 		JBrowse link
G RPP38-DT RPP38 divergent transcript IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,095,385...15,097,319
Ensembl chr10:15,095,385...15,097,319 		JBrowse link
G RSU1 Ras suppressor protein 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,590,611...16,817,424
Ensembl chr10:16,590,611...16,817,463 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,129,641...12,169,958
Ensembl chr10:12,129,637...12,169,961 		JBrowse link
G SEPHS1 selenophosphate synthetase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,317,428...13,348,293
Ensembl chr10:13,317,428...13,348,298 		JBrowse link
G SFMBT2 Scm like with four mbt domains 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,158,624...7,411,490
Ensembl chr10:7,158,624...7,411,488 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292 		JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,315,421...17,454,595
Ensembl chr10:17,315,421...17,454,595 		JBrowse link
G STAM signal transducing adaptor molecule IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,644,151...17,716,824
Ensembl chr10:17,644,151...17,716,824 		JBrowse link
G SUV39H2 SUV39H2 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,878,866...14,904,315
Ensembl chr10:14,878,820...14,904,315 		JBrowse link
G TAF3 TATA-box binding protein associated factor 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,818,505...8,016,631
Ensembl chr10:7,818,497...8,016,631 		JBrowse link
G TASOR2 transcription activation suppressor family member 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,684,838...5,763,740
Ensembl chr10:5,684,731...5,763,779 		JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,137,336...17,201,672
Ensembl chr10:17,137,336...17,202,054 		JBrowse link
G TUBAL3 tubulin alpha like 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,393,101...5,404,828
Ensembl chr10:5,393,101...5,404,828 		JBrowse link
G UCMA upper zone of growth plate and cartilage matrix associated IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,221,766...13,234,374
Ensembl chr10:13,221,766...13,234,374 		JBrowse link
G UCN3 urocortin 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,364,966...5,374,692
Ensembl chr10:5,364,966...5,374,692 		JBrowse link
G UPF2 UPF2 regulator of nonsense mediated mRNA decay IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,920,022...12,043,170
Ensembl chr10:11,920,022...12,043,170 		JBrowse link
G USP6NL USP6 N-terminal like IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,460,510...11,611,650
Ensembl chr10:11,460,510...11,611,666 		JBrowse link
G VIM vimentin IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		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 IAGP
EXP		 ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 More... NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481 		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 chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G IL13 interleukin 13 ISO RGD PMID:17429054 RGD:2290347 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL17A interleukin 17A ISO Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G LGALS1 galectin 1 ISO protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chr22:37,675,636...37,679,802
Ensembl chr22:37,675,636...37,679,802 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ClinVar Annotator: match by term: Lipoid nephrosis ClinVar PMID:23687361 PMID:32581362 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18256598 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 disease_progression IEP RGD PMID:17890747 RGD:7174718 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 severity
no_association		 IAGP DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:polymorphism:3' utr:2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)		 RGD PMID:12900808 PMID:15687724 PMID:19011907 RGD:7244138, RGD:7244146, RGD:7244144 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11304663 PMID:9453001 RGD:10046046 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO protein:increased expression:kidney (rat) RGD PMID:19147991 RGD:2307223 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,147,603 		JBrowse link
G ACE angiotensin I converting enzyme treatment ISO protein:increased activity:multiple RGD PMID:2175683 PMID:15942045 RGD:11038913, RGD:1598707 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACTN4 actinin alpha 4 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10453743 PMID:15327387 PMID:15464418 PMID:17495019 PMID:19479957 More... NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G ALB albumin IDA
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1556257 PMID:17178036 PMID:22203175 RGD:11036090 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:19194550 RGD:2317535 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119 		JBrowse link
G ANLN anillin, actin binding protein IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:18614621 RGD:2313652 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOB apolipoprotein B ISO protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOC2 apolipoprotein C2 IEP protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565 		JBrowse link
G APOC3 apolipoprotein C3 IEP protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G APOE apolipoprotein E IEP protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APOL1 apolipoprotein L1 IAGP ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More... NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530 		JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668 		JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP 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 chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G CD2 CD2 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chr 1:116,754,430...116,769,229
Ensembl chr 1:116,754,430...116,769,229 		JBrowse link
G CDK20 cyclin dependent kinase 20 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 9:87,966,441...87,974,533
Ensembl chr 9:87,966,441...87,974,753 		JBrowse link
G CFI complement factor I disease_progression IEP RGD PMID:9745775 RGD:108019049 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G CFL1 cofilin 1 treatment ISO RGD PMID:24737737 RGD:11570418 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:15086899 PMID:15895257 PMID:19657328 PMID:22083641 PMID:23566014 More... NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:19008299 PMID:25741868 PMID:29127259 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:21196518 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 More... NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:9848783 PMID:15044104 More... NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:25349199 More... NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ8B coenzyme Q8B IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33532864 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CPB2 carboxypeptidase B2 IEP protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10556299 PMID:19580442 PMID:24464559 PMID:25741868 PMID:29127259 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CTSL cathepsin L ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:15197181 RGD:1304337 NCBI chr 9:87,726,119...87,731,469
Ensembl chr 9:87,724,051...87,731,469 		JBrowse link
G DDC dopa decarboxylase ISO protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DDX53 DEAD-box helicase 53 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:22,999,960...23,003,589
Ensembl chr  X:22,999,960...23,003,589 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23274426 PMID:25349199 PMID:25741868 PMID:29127259 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 PMID:29127259 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34783119 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EDNRA endothelin receptor type A ISO mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EPO erythropoietin treatment IDA RGD PMID:23128049 RGD:11041725 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G F3 coagulation factor III, tissue factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISS
IAGP		 ClinVar Annotator: match by term: Nephrotic syndrome MouseDO
ClinVar		 PMID:25741868 PMID:26905694 PMID:28492532 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21441931 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G FN1 fibronectin 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IEP protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO RGD PMID:18614621 RGD:2313652 NCBI chr10:112,149,865...112,227,677
Ensembl chr10:112,149,865...112,215,377 		JBrowse link
G GPC5 glypican 5 EXP CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr13:91,398,621...92,867,237
Ensembl chr13:91,398,621...92,873,682 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO mRNA:increased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G GPX3 glutathione peroxidase 3 IEP
ISO		 protein:decreased expression:plasma
mRNA:decreased expression:kidney		 RGD PMID:12824952 PMID:20685819 PMID:20685819 RGD:1625122, RGD:7205671, RGD:7205671 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G GPX4 glutathione peroxidase 4 IEP mRNA:decreased expression:kidney RGD PMID:20685819 RGD:7205671 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G GUCA2B guanylate cyclase activator 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 1:42,153,410...42,155,820
Ensembl chr 1:42,153,410...42,155,820 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:6420562 PMID:11095018 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IEP RGD PMID:11248742 RGD:12910863 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G IL1B interleukin 1 beta severity ISO
IEP
IAGP		 protein:increased expression:serum (human)
associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)		 RGD PMID:21359962 PMID:21103916 PMID:14760799 RGD:7175324, RGD:7175339, RGD:7175337 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) RGD PMID:14758530 RGD:6907374 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2 interleukin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:24812565 RGD:10402803 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL5 interleukin 5 IEP RGD PMID:22665336 RGD:7240715 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838 		JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29127259 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G ITGA3 integrin subunit alpha 3 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:22512483 PMID:29127259 NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G ITSN1 intersectin 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29773874 NCBI chr21:33,642,501...33,899,861
Ensembl chr21:33,642,400...33,899,861 		JBrowse link
G ITSN2 intersectin 2 ISS MouseDO NCBI chr 2:24,202,864...24,361,368
Ensembl chr 2:24,202,864...24,360,536 		JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KANK4 KN motif and ankyrin repeat domains 4 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:25961457 PMID:28492532 PMID:29127259 NCBI chr 1:62,236,165...62,319,434
Ensembl chr 1:62,236,165...62,319,434 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO RGD PMID:21606114 RGD:7244390 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G KIRREL2 kirre like nephrin family adhesion molecule 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11317351 PMID:11854170 PMID:12039988 PMID:18503012 PMID:20507940 More... NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23999528 PMID:25741868 PMID:26553438 PMID:28492532 PMID:29534211 More... NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:2206901 PMID:9536098 PMID:15367484 PMID:17576681 PMID:18672223 More... NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LIPC lipase C, hepatic type ISO protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC107372315 OSGEP/APEX1 bi-directional promoter region IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28805828 PMID:29127259 NCBI chr14:20,451,644...20,455,489 JBrowse link
G LOC112997540 Sharpr-MPRA regulatory region 13773 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 4:83,284,501...83,284,930 JBrowse link
G LOC126862634 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:71195948-71197147 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:19008299 PMID:25741868 PMID:29127259 NCBI chr17:73,199,809...73,201,008 JBrowse link
G LOC130004381 ATAC-STARR-seq lymphoblastoid silent region 2632 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr10:93,993,745...93,994,034 JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MXRA5 matrix remodeling associated 5 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:3,308,565...3,346,652
Ensembl chr  X:3,308,565...3,346,652 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO1E myosin IE IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29127259 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		JBrowse link
G NCK1 NCK adaptor protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 3:136,862,208...136,951,606
Ensembl chr 3:136,862,208...136,951,606 		JBrowse link
G NCK2 NCK adaptor protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 2:105,744,453...105,894,272
Ensembl chr 2:105,744,912...105,894,274 		JBrowse link
G NFKBIA NFKB inhibitor alpha exacerbates IEP protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:17441336 RGD:127285019 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NOC3L NOC3 like DNA replication regulator IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr10:94,314,907...94,362,939
Ensembl chr10:94,333,226...94,362,959 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin treatment ISO
ISS		 mRNA,protein:decreased expression:podocyte (mouse)
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861		 MouseDO
RGD		 PMID:15942045 PMID:22493483 RGD:1598707, RGD:38599005 NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:2656023 PMID:9536098 PMID:9660941 PMID:9915943 PMID:10972661 More... NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin treatment ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic range proteinuria
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... RGD:1598707 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 treatment IEP RGD PMID:15833166 RGD:7174719 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NUP93 nucleoporin 93 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:30655312 More... NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11519896 PMID:15966048 PMID:18019379 PMID:21791310 PMID:25741868 More... NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PAX2 paired box 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:17186472 PMID:17374725 PMID:19096106 PMID:20689595 PMID:23816342 More... NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564 		JBrowse link
G PLA2G7 phospholipase A2 group VII IEP
ISO		 protein:increased activity:plasma RGD PMID:15292677 PMID:8692015 RGD:7248795, RGD:7257517 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PLCE1 phospholipase C epsilon 1 onset IAGP DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:29127259 PMID:17086182 RGD:7257519 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G PLCE1-AS1 PLCE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr10:94,279,290...94,287,070
Ensembl chr10:94,278,681...94,287,478 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19194550 RGD:2317535 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G REN renin IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO RGD PMID:15075188 RGD:1624161 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO RGD PMID:15075188 RGD:1624161 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SERPINC1 serpin family C member 1 disease_progression ISO
EXP
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11304663 PMID:7532794 PMID:8979144 RGD:11035294, RGD:11038563 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327 		JBrowse link
G SERPINE1 serpin family E member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23232022 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28492532 More... NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		JBrowse link
G SLC35F1 solute carrier family 35 member F1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 6:117,907,264...118,317,671
Ensembl chr 6:117,907,264...118,317,676 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17803470 RGD:1643224 NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO RGD PMID:11967026 RGD:730139 NCBI chr 1:179,293,797...179,358,680
Ensembl chr 1:179,293,714...179,358,680 		JBrowse link
G SOAT2 sterol O-acyltransferase 2 ISO mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chr12:53,103,486...53,124,535
Ensembl chr12:53,103,486...53,124,535 		JBrowse link
G SOD2 superoxide dismutase 2 IEP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9152291 PMID:9152291 RGD:11035285 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SYNPO synaptopodin IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741916 PMID:33615071 NCBI chr 5:150,586,010...150,659,207
Ensembl chr 5:150,601,080...150,659,207 		JBrowse link
G TBC1D8B TBC1 domain family member 8B IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:31732614 NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150 		JBrowse link
G TF transferrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641 		JBrowse link
G TFPI tissue factor pathway inhibitor IEP protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1281619 PMID:8023968 PMID:10515446 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IEP protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNS2 tensin 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29773874 NCBI chr12:53,046,991...53,064,379
Ensembl chr12:53,046,969...53,064,379 		JBrowse link
G TPRKB TP53RK binding protein IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28805828 PMID:29127259 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:15924139 PMID:19129465 PMID:21734084 PMID:23645677 PMID:25741868 More... NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056 		JBrowse link
G WDR73 WD repeat domain 73 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:16217710 PMID:25741868 PMID:25873735 PMID:26123727 PMID:27001912 More... NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WT1 WT1 transcription factor IAGP 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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
nephrotic syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:12384774 PMID:25741868 PMID:28492532 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 More... NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:11805166 PMID:12464671 PMID:12707396 PMID:14978175 PMID:15253708 More... NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 IEP RGD PMID:9892814 RGD:7248412 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G KIRREL2 kirre like nephrin family adhesion molecule 2 IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1		 ClinVar PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 PMID:12039988 More... NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136 		JBrowse link
G LOC126807255 BRD4-independent group 4 enhancer GRCh37_chr4:187538202-187539401 IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr 4:186,617,048...186,618,247 JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar Annotator: match by term: NPHS1-related condition
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1		 OMIM
ClinVar		 PMID:2656023 PMID:9536098 PMID:9543371 PMID:9660941 PMID:9915943 More... NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin IAGP ClinVar Annotator: match by term: Idiopathic nephrotic syndrome
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome		 ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 More... NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G PROS1 protein S IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 More... NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 More... NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1		 ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:22099579 PMID:25741868 PMID:27719739 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		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 IAGP
EXP		 ClinVar Annotator: match by term: Nephrotic syndrome, type 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24814193 PMID:25741868 PMID:28492532 NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632 		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 IAGP
EXP		 ClinVar Annotator: match by term: Nephrotic syndrome, type 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
nephrotic syndrome type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP93 nucleoporin 93 IAGP
EXP		 ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864 NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286 		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 IAGP
EXP		 ClinVar Annotator: match by term: Nephrotic syndrome, type 13
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:26878725 PMID:28492532 NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757 		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 IAGP ClinVar Annotator: match by term: Nephrotic syndrome 14 ClinVar
OMIM		 PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More... NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		JBrowse link
nephrotic syndrome type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129998720 ATAC-STARR-seq lymphoblastoid silent region 18332 IAGP ClinVar Annotator: match by term: Nephrotic syndrome 15 ClinVar PMID:25741868
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 More... NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667 		JBrowse link
G MAGI2-AS3 MAGI2 antisense RNA 3 IAGP ClinVar Annotator: match by term: Nephrotic syndrome 15 ClinVar PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 NCBI chr 7:79,452,957...79,471,208
Ensembl chr 7:79,452,877...79,471,208 		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 IAGP ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791 		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 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 17 ClinVar PMID:25741868 PMID:30179222 NCBI chr17:75,236,599...75,262,363
Ensembl chr17:75,236,599...75,262,363 		JBrowse link
G NUP85 nucleoporin 85 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 17 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758 		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 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
nephrotic syndrome type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130005685 ATAC-STARR-seq lymphoblastoid active region 4704 IAGP ClinVar Annotator: match by term: NUP160-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr11:47,848,288...47,848,847 JBrowse link
G NUP160 nucleoporin 160 IAGP 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 chr11:47,778,118...47,848,544
Ensembl chr11:47,778,087...47,848,555 		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 IEP protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G APOL1 apolipoprotein L1 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More... NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530 		JBrowse link
G AVIL advillin IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr12:57,797,380...57,818,734
Ensembl chr12:57,797,376...57,818,734 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to		 ClinVar PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More... NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More... NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome ClinVar PMID:15086927 PMID:15968559 PMID:17211152 PMID:25741868 PMID:28476686 More... NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin IAGP
EXP		 ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IEP mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NUP205 nucleoporin 205 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757 		JBrowse link
G NUP93 nucleoporin 93 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286 		JBrowse link
G PAX2 paired box 2 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PLA2G7 phospholipase A2 group VII disease_progression IAGP RGD PMID:9853251 RGD:7248793 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
G WT1 WT1 transcription factor IAGP 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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XPO5 exportin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038 		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 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 20 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30661770 PMID:31732614 NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150 		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 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 21 OMIM
ClinVar		 PMID:25741868 PMID:29058690 NCBI chr12:57,797,380...57,818,734
Ensembl chr12:57,797,376...57,818,734 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 21 ClinVar PMID:25741868 PMID:29058690 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
nephrotic syndrome type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 22 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33523862 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475 		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 IAGP ClinVar Annotator: match by term: KIRREL1-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 23 OMIM
ClinVar		 PMID:25741868 PMID:31472902 NCBI chr 1:157,993,645...158,100,262
Ensembl chr 1:157,993,273...158,100,262 		JBrowse link
G LOC126805884 BRD4-independent group 4 enhancer GRCh37_chr1:158063276-158064475 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 23 ClinVar PMID:25741868 PMID:31472902 NCBI chr 1:158,093,486...158,094,685 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 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 24
ClinVar Annotator: match by term: DAAM2-related condition
ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 24		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33232676 NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877 		JBrowse link
G DAAM2-AS1 DAAM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 24 ClinVar PMID:25741868 NCBI chr 6:39,888,790...39,897,380
Ensembl chr 6:39,881,804...39,900,071 		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 IAGP ClinVar Annotator: match by term: LAMA5-related condition
ClinVar Annotator: match by term: LAMA5-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 26		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29534211 PMID:29706646 PMID:29764427 More... NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LAMA5-AS1 LAMA5 antisense RNA 1 IAGP ClinVar Annotator: match by term: LAMA5-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr20:62,353,010...62,356,480
Ensembl chr20:62,352,970...62,356,480 		JBrowse link
G LOC130066305 ATAC-STARR-seq lymphoblastoid silent region 13109 IAGP ClinVar Annotator: match by term: LAMA5-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr20:62,366,996...62,367,435 JBrowse link
nephrotic syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130004381 ATAC-STARR-seq lymphoblastoid silent region 2632 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar NCBI chr10:93,993,745...93,994,034 JBrowse link
G NOC3L NOC3 like DNA replication regulator IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 3
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 chr10:94,314,907...94,362,939
Ensembl chr10:94,333,226...94,362,959 		JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP
EXP		 ClinVar Annotator: match by term: Nephrotic syndrome, type 3
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17086182 PMID:18709391 PMID:18975016 PMID:20507940 PMID:20591883 More... NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G PLCE1-AS1 PLCE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar PMID:17086182 PMID:22865593 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:94,279,290...94,287,070
Ensembl chr10:94,278,681...94,287,478 		JBrowse link
G PLCE1-AS2 PLCE1 antisense RNA 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar PMID:25741868 NCBI chr10:94,081,950...94,108,794
Ensembl chr10:94,081,950...94,108,814 		JBrowse link
nephrotic syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 4 ClinVar PMID:15266301 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G WT1 WT1 transcription factor IAGP
EXP		 ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Nephrotic syndrome, type 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMB2 laminin subunit beta 2 IAGP
EXP		 ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities | ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LOC129936738 ATAC-STARR-seq lymphoblastoid active region 19855 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:25741868 PMID:28492532
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities ClinVar PMID:25741868 PMID:30676711 PMID:32295525 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities ClinVar PMID:20811047 PMID:25741868 PMID:28130426 PMID:28492532 PMID:29332120 More... NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954 		JBrowse link
G SERPINA10 serpin family A member 10 IAGP 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 chr14:94,280,460...94,293,268
Ensembl chr14:94,280,460...94,293,268 		JBrowse link
nephrotic syndrome type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861467 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15678492-15679691 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:15,525,558...15,526,757 JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O IAGP
EXP		 ClinVar Annotator: match by term: Nephrotic syndrome, type 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21722858 PMID:25741868 PMID:28492532 NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175 		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 IAGP
EXP		 ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis
ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 More... NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		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 IAGP
EXP		 ClinVar Annotator: match by term: Nephrotic syndrome, type 8
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:23867502 PMID:25741868 PMID:25741905 PMID:28492532 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378 		JBrowse link
G LOC130061973 ATAC-STARR-seq lymphoblastoid silent region 9158 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:81,869,405...81,869,614 JBrowse link
G LOC130061974 ATAC-STARR-seq lymphoblastoid active region 12981 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 8 ClinVar PMID:25741905 NCBI chr17:81,869,745...81,869,924 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 IAGP
EXP		 ClinVar Annotator: match by term: Nephrotic syndrome, type 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24270420 PMID:25741868 PMID:25741916 More... NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
Pierson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685 		JBrowse link
G C3orf62 chromosome 3 open reading frame 62 IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,268,596...49,277,232
Ensembl chr 3:49,268,596...49,277,232 		JBrowse link
G C3orf84 chromosome 3 open reading frame 84 IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,177,634...49,191,858
Ensembl chr 3:49,177,634...49,191,858 		JBrowse link
G CCDC71 coiled-coil domain containing 71 IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,162,535...49,166,331
Ensembl chr 3:49,162,535...49,166,331 		JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G GPX1 glutathione peroxidase 1 IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G IHO1 interactor of HORMAD1 1 IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,191,309...49,258,106
Ensembl chr 3:49,198,428...49,258,106 		JBrowse link
G KLHDC8B kelch domain containing 8B IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,171,598...49,176,486
Ensembl chr 3:49,171,598...49,176,486 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP
ISS
EXP
ISO		 ClinVar Annotator: match by term: Pierson syndrome
OMIM:609049
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More... RGD:7207425, RGD:7207425 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LOC129936738 ATAC-STARR-seq lymphoblastoid active region 19855 IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:25741868 PMID:28492532
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,422,333...49,429,324
Ensembl chr 3:49,422,333...49,429,326 		JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G TCTA T cell leukemia translocation altered IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,412,423...49,416,476
Ensembl chr 3:49,412,212...49,416,476 		JBrowse link
G TNS2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr12:53,046,991...53,064,379
Ensembl chr12:53,046,969...53,064,379 		JBrowse link
G USP4 ubiquitin specific peptidase 4 IAGP ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 3:49,277,144...49,340,053
Ensembl chr 3:49,277,144...49,340,712 		JBrowse link
Puromycin Aminonucleoside Nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:3392211 RGD:12879820 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACMSD aminocarboxymuconate semialdehyde decarboxylase ISO RGD PMID:16711654 RGD:13831123 NCBI chr 2:134,838,616...134,902,034
Ensembl chr 2:134,838,616...134,902,034 		JBrowse link
G ACTR2 actin related protein 2 ISO mRNA, protein:increased expression:cortex of kidney (rat) RGD PMID:19617259 RGD:11530057 NCBI chr 2:65,227,831...65,271,253
Ensembl chr 2:65,227,788...65,271,253 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:8446257 RGD:11039400 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G APOE apolipoprotein E ISO RGD PMID:8413767 RGD:11040583 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		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 chr17:81,035,151...81,117,434
Ensembl chr17:81,035,122...81,117,434 		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 chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO mRNA:increased expression:renal glomerulus (rat) RGD PMID:9175058 RGD:4144855 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO mRNA, protein:altered expression:glomerulus (rat) RGD PMID:21876538 RGD:38599163 NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO RGD PMID:20071462 RGD:9835041 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647 		JBrowse link
G REN renin ISO RGD PMID:8446257 RGD:11039400 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G XDH xanthine dehydrogenase treatment ISO RGD PMID:26121320 RGD:13208956 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112806077 Sharpr-MPRA regulatory region 13820 IAGP ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia ClinVar NCBI chr 2:216,412,246...216,412,593 JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP
ISS
EXP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
OMIM:242900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... RGD:1599053 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Urological Manifestations 477
          proteinuria 443
            nephrosis 330
              Daentl Towsend Siegel Syndrome 0
              Deafness, Nephritis, Anorectal Malformation 0
              Forsythe-Wakeling Syndrome 0
              Galloway-Mowat syndrome + 16
              Nephrosialidosis 0
              Nephrosis with Deafness and Urinary Tract and Digital Malformations 0
              Pulmonic Stenosis and Congenital Nephrosis 0
              Puromycin Aminonucleoside Nephrosis 12
              hypoparathyroidism-deafness-renal disease syndrome 75
              lipoid nephrosis 8
              nephrotic syndrome + 206
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Urogenital Diseases 6454
        urinary system disease 2962
          kidney disease 2693
            proteinuria 443
              nephrosis 330
                Daentl Towsend Siegel Syndrome 0
                Deafness, Nephritis, Anorectal Malformation 0
                Forsythe-Wakeling Syndrome 0
                Galloway-Mowat syndrome + 16
                Nephrosialidosis 0
                Nephrosis with Deafness and Urinary Tract and Digital Malformations 0
                Pulmonic Stenosis and Congenital Nephrosis 0
                Puromycin Aminonucleoside Nephrosis 12
                hypoparathyroidism-deafness-renal disease syndrome 75
                lipoid nephrosis 8
                nephrotic syndrome + 206
paths to the root