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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;   MIM:PS256300;   NCI:C35337;   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 ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:14675423 PMID:14978175 More... NCBI chr13:71,022,215...71,100,010
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Familial nephrotic syndrome ClinVar PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 More... NCBI chr 1:94,836,243...94,846,119
Ensembl chr 1:85,708,793...85,718,670 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... NCBI chr13:70,993,622...71,011,585
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 ISO protein:decreased activity:kidney (mouse) RGD PMID:11014984 RGD:7207147 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
nephrotic syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:12384774 PMID:25741868 PMID:28492532 NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:2296603 PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 More... NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr10:106,352,858...106,356,347
Ensembl chr10:105,854,533...105,858,023 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:11805166 PMID:12464671 PMID:12707396 PMID:14978175 PMID:15253708 More... NCBI chr13:71,022,215...71,100,010
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition ClinVar PMID:9536098 PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 More... NCBI chr 1:94,836,243...94,846,119
Ensembl chr 1:85,708,793...85,718,670 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:85,720,812...85,749,078 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 More... NCBI chr13:70,993,622...71,011,585
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:10790208 PMID:11127877 PMID:11858485 PMID:18322254 PMID:20880255 More... NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286 		JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 ClinVar PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 More... NCBI chr18:36,121,626...36,133,596
Ensembl chr18:35,824,550...35,882,642 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:22099579 PMID:25741868 PMID:27719739 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
nephrotic syndrome type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: EMP2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 10 OMIM
ClinVar		 PMID:24814193 PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr10:5,866,869...5,901,533
Ensembl chr10:5,360,073...5,394,733 		JBrowse link
nephrotic syndrome type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 11 OMIM
ClinVar		 PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222 NCBI chr 7:55,239,610...55,285,050
Ensembl chr 7:53,353,743...53,398,370 		JBrowse link
nephrotic syndrome type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 12 ClinVar PMID:25741868 NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
nephrotic syndrome type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: NUP205-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 13 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 NCBI chr 4:64,822,051...64,887,996
Ensembl chr 4:63,854,783...63,920,844 		JBrowse link
nephrotic syndrome type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome 14 | ClinVar Annotator: match by term: SGPL1-related condition OMIM
ClinVar		 PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More... NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
nephrotic syndrome type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chr 4:15,278,518...16,762,427
Ensembl chr 4:14,386,399...15,870,240 		JBrowse link
nephrotic syndrome type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr 8:28,587,770...28,617,212
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
nephrotic syndrome type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 17 ClinVar PMID:25741868 PMID:30179222 NCBI chr10:101,324,378...101,342,373
Ensembl chr10:100,825,426...100,844,462 		JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: NUP85-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr10:101,305,241...101,323,980
Ensembl chr10:100,806,437...100,825,043 		JBrowse link
nephrotic syndrome type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239 		JBrowse link
nephrotic syndrome type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: NUP160-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 19 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565 		JBrowse link
nephrotic syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:62,826,025...62,844,071 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More... NCBI chr13:71,022,215...71,100,010
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:109,907,251...110,111,214
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More... NCBI chr 3:41,946,694...41,974,629
Ensembl chr 3:21,542,221...21,563,294 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome ClinVar PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798 NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chr13:70,993,622...71,011,585
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:64,822,051...64,887,996
Ensembl chr 4:63,854,783...63,920,844 		JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:81,689,446...81,735,406
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
nephrotic syndrome type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 20 | ClinVar Annotator: match by term: TBC1D8B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30661770 PMID:31732614 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133 		JBrowse link
nephrotic syndrome type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: AVIL-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 21 OMIM
ClinVar		 PMID:25741868 PMID:29058690 NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:62,826,025...62,844,071 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 21 ClinVar PMID:25741868 PMID:29058690 NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
nephrotic syndrome type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nos1ap nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: NOS1AP-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 22 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33523862 NCBI chr13:85,080,558...85,353,741
Ensembl chr13:82,530,577...82,820,949 		JBrowse link
nephrotic syndrome type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kirrel1 kirre like nephrin family adhesion molecule 1 ISO ClinVar Annotator: match by term: KIRREL1-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 23 OMIM
ClinVar		 PMID:25741868 PMID:31472902 NCBI chr 2:174,819,564...174,912,998
Ensembl chr 2:172,525,245...172,615,299 		JBrowse link
Nephrotic Syndrome Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 24 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33232676 NCBI chr 9:18,926,620...19,044,672
Ensembl chr 9:11,428,724...11,545,497 		JBrowse link
Nephrotic Syndrome Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: LAMA5-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 26 OMIM
ClinVar		 PMID:24130771 PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 More... NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
nephrotic syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition ClinVar PMID:17086182 PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 More... NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 | ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17086182 PMID:17576681 PMID:18065803 PMID:18709391 More... NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
nephrotic syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Nephrotic syndrome, type 4 OMIM
ClinVar		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities OMIM
ClinVar		 PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:25741868 PMID:26576547 PMID:28492532 PMID:30676711 PMID:32295525 NCBI chr 9:21,767,963...21,797,997
Ensembl chr 9:14,268,745...14,300,400 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868 NCBI chr 6:128,520,894...128,529,332
Ensembl chr 6:122,756,108...122,764,544 		JBrowse link
nephrotic syndrome type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 6 | ClinVar Annotator: match by term: PTPRO-related condition OMIM
ClinVar		 PMID:21722858 PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr 4:171,895,104...172,105,911
Ensembl chr 4:170,164,431...170,374,771 		JBrowse link
nephrotic syndrome type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 ClinVar
OMIM		 PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 More... NCBI chr10:74,348,931...74,374,509
Ensembl chr10:73,855,583...73,877,100 		JBrowse link
nephrotic syndrome type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: ARHGDIA-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 8 OMIM
ClinVar		 PMID:23867502 PMID:25741868 PMID:28492532 NCBI chr10:106,352,858...106,356,347
Ensembl chr10:105,854,533...105,858,023 		JBrowse link
nephrotic syndrome type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: COQ8B-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 9 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24270420 PMID:25741868 More... NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:82,526,568...82,549,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      nephrotic syndrome 175
        familial nephrotic syndrome 52
          Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 4
          Nephrotic Syndrome Type 24 1
          Nephrotic Syndrome Type 26 1
          nephrotic syndrome type 1 14
          nephrotic syndrome type 10 1
          nephrotic syndrome type 11 1
          nephrotic syndrome type 12 2
          nephrotic syndrome type 13 1
          nephrotic syndrome type 14 1
          nephrotic syndrome type 15 1
          nephrotic syndrome type 16 1
          nephrotic syndrome type 17 2
          nephrotic syndrome type 18 1
          nephrotic syndrome type 19 1
          nephrotic syndrome type 2 20
          nephrotic syndrome type 20 1
          nephrotic syndrome type 21 2
          nephrotic syndrome type 22 1
          nephrotic syndrome type 23 1
          nephrotic syndrome type 3 2
          nephrotic syndrome type 4 1
          nephrotic syndrome type 6 1
          nephrotic syndrome type 7 1
          nephrotic syndrome type 8 1
          nephrotic syndrome type 9 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Urogenital Diseases 5402
        urinary system disease 2834
          kidney disease 2580
            proteinuria 589
              nephrosis 293
                nephrotic syndrome 175
                  familial nephrotic syndrome 52
                    Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 4
                    Nephrotic Syndrome Type 24 1
                    Nephrotic Syndrome Type 26 1
                    nephrotic syndrome type 1 14
                    nephrotic syndrome type 10 1
                    nephrotic syndrome type 11 1
                    nephrotic syndrome type 12 2
                    nephrotic syndrome type 13 1
                    nephrotic syndrome type 14 1
                    nephrotic syndrome type 15 1
                    nephrotic syndrome type 16 1
                    nephrotic syndrome type 17 2
                    nephrotic syndrome type 18 1
                    nephrotic syndrome type 19 1
                    nephrotic syndrome type 2 20
                    nephrotic syndrome type 20 1
                    nephrotic syndrome type 21 2
                    nephrotic syndrome type 22 1
                    nephrotic syndrome type 23 1
                    nephrotic syndrome type 3 2
                    nephrotic syndrome type 4 1
                    nephrotic syndrome type 6 1
                    nephrotic syndrome type 7 1
                    nephrotic syndrome type 8 1
                    nephrotic syndrome type 9 1
paths to the root