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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:familial nephrotic syndrome
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Accession:DOID:2590 term browser browse the term
Definition:A nephrotic syndrome that has_material_basis_in genetic mutations. (DO)
Synonyms:exact_synonym: CNF;   congenital nephrosis;   congenital nephrotic syndrome;   genetic nephrotic syndrome;   hereditary nephrotic syndrome;   hereditary nephrotic syndromes
 primary_id: MESH:C535761
 xref: ICD10CM:N04;   NCI:C35337;   OMIM:PS256300;   ORDO:564127
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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
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
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: Nephrotic syndrome, type 26
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      nephrotic syndrome 206
        familial nephrotic syndrome 72
          Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 6
          Nephrotic Syndrome Type 24 2
          Nephrotic Syndrome Type 26 3
          nephrotic syndrome type 1 16
          nephrotic syndrome type 10 1
          nephrotic syndrome type 11 1
          nephrotic syndrome type 12 1
          nephrotic syndrome type 13 1
          nephrotic syndrome type 14 1
          nephrotic syndrome type 15 3
          nephrotic syndrome type 16 1
          nephrotic syndrome type 17 2
          nephrotic syndrome type 18 1
          nephrotic syndrome type 19 2
          nephrotic syndrome type 2 22
          nephrotic syndrome type 20 1
          nephrotic syndrome type 21 2
          nephrotic syndrome type 22 1
          nephrotic syndrome type 23 2
          nephrotic syndrome type 3 5
          nephrotic syndrome type 4 2
          nephrotic syndrome type 6 2
          nephrotic syndrome type 7 1
          nephrotic syndrome type 8 3
          nephrotic syndrome type 9 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Urogenital Diseases 6456
        urinary system disease 2964
          kidney disease 2695
            proteinuria 443
              nephrosis 330
                nephrotic syndrome 206
                  familial nephrotic syndrome 72
                    Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 6
                    Nephrotic Syndrome Type 24 2
                    Nephrotic Syndrome Type 26 3
                    nephrotic syndrome type 1 16
                    nephrotic syndrome type 10 1
                    nephrotic syndrome type 11 1
                    nephrotic syndrome type 12 1
                    nephrotic syndrome type 13 1
                    nephrotic syndrome type 14 1
                    nephrotic syndrome type 15 3
                    nephrotic syndrome type 16 1
                    nephrotic syndrome type 17 2
                    nephrotic syndrome type 18 1
                    nephrotic syndrome type 19 2
                    nephrotic syndrome type 2 22
                    nephrotic syndrome type 20 1
                    nephrotic syndrome type 21 2
                    nephrotic syndrome type 22 1
                    nephrotic syndrome type 23 2
                    nephrotic syndrome type 3 5
                    nephrotic syndrome type 4 2
                    nephrotic syndrome type 6 2
                    nephrotic syndrome type 7 1
                    nephrotic syndrome type 8 3
                    nephrotic syndrome type 9 1
paths to the root