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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;   hereditary nephrotic syndrome;   hereditary nephrotic syndromes
 primary_id: MESH:C535761
 xref: ICD10CM:N04;   NCI:C35337;   OMIM:PS256300
For additional species annotation, visit the Alliance of Genome Resources.


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familial nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Nephrosis, congenital ClinVar PMID:14709599, PMID:14973778, PMID:14973782, PMID:20679665, PMID:22966035, PMID:24033266, PMID:25741868, PMID:25956699, PMID:26931382, PMID:27172925, PMID:27325525, PMID:28492532, PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome ClinVar PMID:18436095, PMID:19406966, PMID:25741868, PMID:26467025, PMID:28117080, PMID:28492532 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:11805166, PMID:14978175, PMID:16721582, PMID:24033266 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:1302008, PMID:1658787, PMID:9398852, PMID:9499425, PMID:9529364, PMID:10094551, PMID:10762296, PMID:12050205, PMID:19484379, PMID:20442690, PMID:23295293, PMID:23515051, PMID:24033266, PMID:24161391, PMID:24856380, PMID:25741868, PMID:25818337, PMID:27719739, PMID:28204945, PMID:28492532, PMID:29668062, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
nephrotic syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:14709599, PMID:14973778, PMID:14973782, PMID:20679665, PMID:22966035, PMID:24033266, PMID:25741868, PMID:25956699, PMID:26931382, PMID:27172925, PMID:27325525, PMID:28492532, PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar PMID:25741868 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:12464671, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15253708, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:16354237, PMID:16898497, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18443213, PMID:18823551, PMID:19145239, PMID:19406966, PMID:19876656, PMID:20507940, PMID:20947785, PMID:21171529, PMID:21355056, PMID:21415313, PMID:22565185, PMID:22578956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24227627, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25741868, PMID:26211502, PMID:26420286, PMID:26467025, PMID:26594346, PMID:26668027, PMID:28492532, PMID:28658201, PMID:29982877, PMID:30260545, PMID:32581362 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:15338398, PMID:20172850, PMID:25741868, PMID:26467025, PMID:28117080, PMID:28492532 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695, PMID:8606597, PMID:10742096, PMID:11729243, PMID:11805166, PMID:11854170, PMID:12464671, PMID:12649741, PMID:12707396, PMID:14570703, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15042551, PMID:15059485, PMID:15253708, PMID:15322893, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:16354237, PMID:16810518, PMID:16898497, PMID:17218332, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18380020, PMID:18443213, PMID:18823551, PMID:19067903, PMID:19145239, PMID:19371226, PMID:19406966, PMID:19674119, PMID:19876656, PMID:20001346, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21125408, PMID:21171529, PMID:21355056, PMID:21415313, PMID:21636722, PMID:22565185, PMID:22578956, PMID:23013956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24072147, PMID:24089165, PMID:24227627, PMID:24500309, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25720465, PMID:25741868, PMID:25852895, PMID:25903641, PMID:26211502, PMID:26420286, PMID:26467025, PMID:26467726, PMID:26594346, PMID:26668027, PMID:28204945, PMID:28385484, PMID:28492532, PMID:28658201, PMID:29049388, PMID:29382718, PMID:29982877, PMID:30260545, PMID:30655312, PMID:32581362 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
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: Nephrotic syndrome, type 10 OMIM
ClinVar
PMID:24814193 NCBI chr10:5,433,248...5,467,840
Ensembl chr10:5,433,248...5,467,839
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
ClinVar Annotator: match by term: Nephrotic syndrome, type 11
ClinVar
OMIM
PMID:25741868, PMID:26411495, PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
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 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 12
ClinVar Annotator: match by term: Nephrotic syndrome, type 12
ClinVar
OMIM
PMID:25741868, PMID:26878725 NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
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: NEPHROTIC SYNDROME, TYPE 13
ClinVar Annotator: match by term: Nephrotic syndrome, type 13
ClinVar
OMIM
PMID:26878725 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
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: Nephrotic syndrome type 14
ClinVar
OMIM
PMID:23232022, PMID:24777844, PMID:25741868, PMID:28165339, PMID:28165343, PMID:28181337 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
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: NEPHROTIC SYNDROME 15
ClinVar Annotator: match by term: Nephrotic syndrome type 15
ClinVar
OMIM
PMID:25741868, PMID:27932480 NCBI chr 4:10,995,241...12,472,423
Ensembl chr 4:10,995,234...11,610,518
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: NEPHROTIC SYNDROME 16 ClinVar
OMIM
PMID:25961457 NCBI chr 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397
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 chr10:104,137,655...104,156,576
Ensembl chr10:104,137,655...104,156,576
JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17 ClinVar
OMIM
PMID:25741868, PMID:30179222 NCBI chr10:104,118,999...104,137,258
Ensembl chr10:104,118,945...104,137,319
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:30179222 NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
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: NEPHROTIC SYNDROME, TYPE 19 OMIM
ClinVar
PMID:25741868, PMID:30179222 NCBI chr 3:79,496,239...79,562,163
Ensembl chr 3:79,498,179...79,551,128
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 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:12464671, PMID:12707396, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15253708, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18443213, PMID:18823551, PMID:19145239, PMID:19406966, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21171529, PMID:21355056, PMID:21415313, PMID:22565185, PMID:22578956, PMID:23242530, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24227627, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25741868, PMID:26413278, PMID:26420286, PMID:26467025, PMID:26594346, PMID:26668027, PMID:28492532, PMID:28658201, PMID:29660491, PMID:30260545, PMID:32581362 NCBI chr13:73,950,422...74,025,237 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 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779, PMID:32581362 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by OMIM:600995
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8589695, PMID:8606597, PMID:10742096, PMID:11729243, PMID:11733557, PMID:11805166, PMID:11805168, PMID:11854170, PMID:12464671, PMID:12608558, PMID:12644922, PMID:12649741, PMID:12707396, PMID:12776285, PMID:14570703, PMID:14675423, PMID:14701729, PMID:14871423, PMID:14978175, PMID:15015071, PMID:15042551, PMID:15059485, PMID:15253708, PMID:15322893, PMID:15327385, PMID:15338398, PMID:15496146, PMID:15504144, PMID:15627790, PMID:15769810, PMID:15780077, PMID:15817495, PMID:15954915, PMID:15968559, PMID:16286890, PMID:16481888, PMID:16721582, PMID:16810518, PMID:16898497, PMID:16900088, PMID:16968734, PMID:17109732, PMID:17216259, PMID:17218332, PMID:17371932, PMID:17635752, PMID:17699384, PMID:17899208, PMID:17942774, PMID:17942957, PMID:18216321, PMID:18392643, PMID:18443213, PMID:18481113, PMID:18499321, PMID:18543005, PMID:18596732, PMID:18683072, PMID:18726620, PMID:18823551, PMID:19067903, PMID:19145239, PMID:19268410, PMID:19371226, PMID:19406966, PMID:19520069, PMID:19674119, PMID:19812541, PMID:20001346, PMID:20025681, PMID:20333530, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21125408, PMID:21171529, PMID:21355056, PMID:21415313, PMID:21636722, PMID:21722858, PMID:22228437, PMID:22565185, PMID:22578956, PMID:23013956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:23800802, PMID:24033266, PMID:24072147, PMID:24089165, PMID:24227627, PMID:24500309, PMID:24509478, PMID:24511133, PMID:24519673, PMID:24715228, PMID:24742477, PMID:24856380, PMID:24969201, PMID:25349199, PMID:25525159, PMID:25599733, PMID:25741868, PMID:25852895, PMID:25903641, PMID:26138234, PMID:26211502, PMID:26248470, PMID:26413278, PMID:26420286, PMID:26467025, PMID:26467726, PMID:26594346, PMID:26668027, PMID:26820844, PMID:27766458, PMID:27885584, PMID:28117080, PMID:28204945, PMID:28385484, PMID:28492532, PMID:28529802, PMID:28658201, PMID:28712774, PMID:29049388, PMID:29382718, PMID:29660491, PMID:30241959, PMID:30260545, PMID:30655312, PMID:32581362 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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 chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008, PMID:1327525, PMID:1338906, PMID:1655284, PMID:6307071, PMID:7795587, PMID:8295405, PMID:9090524, PMID:9529364, PMID:9607189, PMID:10470095, PMID:10505700, PMID:11182928, PMID:12970737, PMID:15150775, PMID:15509792, PMID:17496156, PMID:17541636, PMID:17853480, PMID:23497137, PMID:23715653, PMID:23935527, PMID:25501161, PMID:25818337, PMID:26069768, PMID:26467025, PMID:27013732, PMID:27899157, PMID:28204945, PMID:28492532, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
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 OMIM
ClinVar
PMID:25741868, PMID:30661770 NCBI chr  X:110,894,831...110,983,269
Ensembl chr  X:110,894,845...110,983,309
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: NEPHROTIC SYNDROME, TYPE 21 ClinVar
OMIM
PMID:29058690 NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21 ClinVar PMID:29058690 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
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 PMID:18975016, PMID:20591883, PMID:23595123, PMID:24130771, PMID:24247120, PMID:25741868, PMID:26668027 NCBI chr 1:257,469,538...257,498,844
Ensembl chr 1:257,469,538...257,498,844
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3
ClinVar Annotator: match by OMIM:610725
OMIM
ClinVar
PMID:17086182, PMID:18975016, PMID:20507940, PMID:20591883, PMID:22865593, PMID:23595123, PMID:24130771, PMID:24247120, PMID:24500309, PMID:24902943, PMID:25060053, PMID:25741868, PMID:26467025, PMID:26668027, PMID:27766458, PMID:28492532, PMID:31319225 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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 OMIM
ClinVar
PMID:1302008, PMID:1327525, PMID:1338906, PMID:1655284, PMID:1658787, PMID:6307071, PMID:7795587, PMID:8295405, PMID:9090524, PMID:9108089, PMID:9398852, PMID:9499425, PMID:9529364, PMID:9607189, PMID:10094551, PMID:10470095, PMID:10505700, PMID:10603123, PMID:10762296, PMID:11182928, PMID:12050205, PMID:12970737, PMID:15150775, PMID:15266301, PMID:15483024, PMID:15509792, PMID:17496156, PMID:17541636, PMID:17853480, PMID:18559874, PMID:18591546, PMID:19171881, PMID:19221039, PMID:19484379, PMID:19494353, PMID:19536888, PMID:20368469, PMID:20413658, PMID:20435628, PMID:20442690, PMID:23295293, PMID:23497137, PMID:23515051, PMID:23715653, PMID:23935527, PMID:24033266, PMID:24161391, PMID:24728327, PMID:24856380, PMID:25110071, PMID:25145932, PMID:25349199, PMID:25383892, PMID:25501161, PMID:25741868, PMID:25818337, PMID:25932436, PMID:26069768, PMID:26358501, PMID:26467025, PMID:26725263, PMID:27013732, PMID:27719739, PMID:27899157, PMID:28204945, PMID:28492532, PMID:29668062, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614199
OMIM
ClinVar
PMID:7885444, PMID:14136829, PMID:16097004, PMID:16912710, PMID:18594871, PMID:19251977, PMID:20556798, PMID:21236492, PMID:21763483, PMID:23349334, PMID:23595123, PMID:25741868, PMID:26239645, PMID:26248470, PMID:26467025, PMID:26467726, PMID:27858192, PMID:28492532 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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 This custom term has been created by RGD curators. OMIM
ClinVar
PMID:21722858 NCBI chr 4:171,250,766...171,461,571
Ensembl chr 4:171,250,818...171,461,677
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: Nephrotic syndrome, type 7
ClinVar Annotator: match by OMIM:615008
OMIM
ClinVar
PMID:23274426, PMID:23542698, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
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 OMIM:615244 OMIM
ClinVar
PMID:23867502 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
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 OMIM:615573 OMIM
ClinVar
PMID:24270420 NCBI chr 1:84,043,487...84,067,066
Ensembl chr 1:84,044,551...84,067,066
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      nephrotic syndrome 115
        familial nephrotic syndrome 40
          Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 2
          Nephrotic Syndrome Type 21 2
          nephrotic syndrome type 1 9
          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 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 17
          nephrotic syndrome type 20 1
          nephrotic syndrome type 3 2
          nephrotic syndrome type 4 1
          nephrotic syndrome type 5 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 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        urinary system disease 2069
          kidney disease 1857
            proteinuria 504
              nephrosis 234
                nephrotic syndrome 115
                  familial nephrotic syndrome 40
                    Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 2
                    Nephrotic Syndrome Type 21 2
                    nephrotic syndrome type 1 9
                    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 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 17
                    nephrotic syndrome type 20 1
                    nephrotic syndrome type 3 2
                    nephrotic syndrome type 4 1
                    nephrotic syndrome type 5 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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.