MCID: NPH012
MIFTS: 63

Nephrotic Syndrome

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephrotic Syndrome

MalaCards integrated aliases for Nephrotic Syndrome:

Name: Nephrotic Syndrome 12 74 36 29 54 6 43 15 39 17 71 32
Finnish Congenital Nephrotic Syndrome 71

Classifications:



External Ids:

Disease Ontology 12 DOID:1184
KEGG 36 H01657
ICD9CM 34 581
MeSH 43 D009404
NCIt 49 C34845
SNOMED-CT 67 52254009
ICD10 32 N04 N04.9
UMLS 71 C0027726 C0403399

Summaries for Nephrotic Syndrome

KEGG : 36 Nephrotic syndrome is a heterogeneous group of disorders characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. First line treatment is with oral corticosteroids, but some patients do not respond to this treatment. Steroid-resistant nephrotic syndrome (SRNS) typically manifests histologically as focal segmental glomerulosclerosis. Calcineurin inhibitors with/without intravenous methylprednisolone pulse therapy (MPT) constitute the standard treatment for SRNS. It has been reported that additional rituximab treatment combined with conventional MPT and immunosuppressive agents is a promising option.

MalaCards based summary : Nephrotic Syndrome, also known as finnish congenital nephrotic syndrome, is related to nephrotic syndrome, type 1 and nephrotic syndrome, type 2, and has symptoms including edema An important gene associated with Nephrotic Syndrome is NPHS2 (NPHS2 Stomatin Family Member, Podocin), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Influenza Viral RNA Transcription and Replication. The drugs Angiotensin II and Valsartan have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.

Wikipedia : 74 Nephrotic syndrome is a collection of symptoms due to kidney damage. This includes protein in the urine,... more...

Related Diseases for Nephrotic Syndrome

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 20 Nephrotic Syndrome, Type 2
Nephrotic Syndrome, Type 3 Nephrotic Syndrome, Type 6
Nephrotic Syndrome, Type 7 Nephrotic Syndrome, Type 8
Nephrotic Syndrome, Type 9 Nephrotic Syndrome, Type 10
Nephrotic Syndrome, Type 11 Nephrotic Syndrome, Type 12
Nephrotic Syndrome, Type 13 Nephrotic Syndrome, Type 14
Nephrotic Syndrome, Type 15 Nephrotic Syndrome, Type 16
Nephrotic Syndrome, Type 17 Nephrotic Syndrome, Type 18
Nephrotic Syndrome, Type 19 Nephrotic Syndrome, Type 21
Familial Nephrotic Syndrome Congenital and Infantile Nephrotic Syndrome

Diseases related to Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1263)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 1 35.0 WT1 NPHS2 NPHS1
2 nephrotic syndrome, type 2 34.9 PLCE1 NPHS2 NPHS1
3 familial nephrotic syndrome 34.6 WT1 PTPRO PLCE1 NPHS2 NPHS1
4 lipoid nephrosis 34.3 WT1 PTPRO NPHS2 NPHS1
5 pierson syndrome 34.1 WT1 PLCE1 NPHS2 NPHS1 LAMB2
6 coenzyme q10 deficiency, primary, 6 34.1 COQ8B COQ6
7 hypoparathyroidism, sensorineural deafness, and renal disease 33.6 NPHS2 NPHS1 LAMB2
8 focal segmental glomerulosclerosis 2 33.4 NPHS2 NPHS1
9 denys-drash syndrome 33.4 WT1 PLCE1 NPHS2 NPHS1
10 focal segmental glomerulosclerosis 1 33.4 NPHS2 NPHS1
11 frasier syndrome 33.2 WT1 PLCE1 NUP107 NPHS2 NPHS1 COQ8B
12 focal segmental glomerulosclerosis 7 33.2 LAMB2 EMP2 COQ8B
13 focal segmental glomerulosclerosis 5 33.1 NPHS2 COQ8B
14 coenzyme q10 deficiency disease 33.1 COQ8B COQ6
15 genetic steroid-resistant nephrotic syndrome 33.0 WT1 TBC1D8B PTPRO PLCE1 NUP93 NUP205
16 schimke immunoosseous dysplasia 33.0 NUP93 NUP205 NUP107 NPHS2
17 galloway-mowat syndrome 33.0 WT1 PTPRO PLCE1 NUP205 NUP133 NUP107
18 focal segmental glomerulosclerosis 32.8 WT1 PTPRO PLCE1 NUP93 NUP107 NPHS2
19 diffuse mesangial sclerosis 32.7 WT1 PLCE1 NPHS2 NPHS1 LAMB2 ARHGDIA
20 coenzyme q10 deficiency, primary, 3 32.3 COQ8B COQ6
21 focal segmental glomerulosclerosis 9 32.0 LAMB2 EMP2 COQ8B
22 focal segmental glomerulosclerosis 8 31.9 LAMB2 EMP2 COQ8B
23 glomerular disease 31.9 NPHS2 NPHS1
24 congenital syphilis 31.1 PLCE1 NPHS2 NPHS1
25 crescentic glomerulonephritis 30.8 WT1 PTPRO NPHS2
26 iga nephropathy 1 30.8 NPHS2 NPHS1
27 nail-patella syndrome 30.8 WT1 PLCE1 NPHS2 NPHS1
28 end stage renal failure 30.3 WT1 SGPL1 PTPRO PLCE1 NUP93 NUP205
29 acute proliferative glomerulonephritis 30.2 NPHS2 NPHS1
30 nephrotic syndrome, type 10 12.7
31 nephrotic syndrome, type 3 12.7
32 nephrotic syndrome, type 6 12.7
33 nephrotic syndrome, type 14 12.7
34 nephrotic syndrome, type 4 12.6
35 nephrotic syndrome, type 9 12.6
36 nephrotic syndrome, type 12 12.6
37 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 12.6
38 nephrotic syndrome, type 8 12.6
39 congenital nephrotic syndrome finnish type 12.6
40 nephrotic syndrome, type 11 12.6
41 nephrotic syndrome, type 15 12.6
42 nephrotic syndrome, type 13 12.6
43 nephrotic syndrome, type 7 12.6
44 nephrotic syndrome, type 16 12.6
45 nephrotic syndrome, type 20 12.6
46 nephrotic syndrome, type 5, with or without ocular abnormalities 12.6
47 nephrotic syndrome, type 17 12.6
48 nephrotic syndrome, type 18 12.6
49 nephrotic syndrome, type 19 12.6
50 nephrotic syndrome, type 21 12.6

Graphical network of the top 20 diseases related to Nephrotic Syndrome:



Diseases related to Nephrotic Syndrome

Symptoms & Phenotypes for Nephrotic Syndrome

UMLS symptoms related to Nephrotic Syndrome:


edema

GenomeRNAi Phenotypes related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.28 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.28 WT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.28 NUP93
4 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.28 TBC1D8B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.28 WT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.28 NUP93
7 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.28 NUP93
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.28 WT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.28 WT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.28 TBC1D8B WT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.28 NUP93 TBC1D8B WT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.28 NUP93
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.28 WT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.28 WT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-51 10.28 TBC1D8B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.28 NUP93
17 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.28 TBC1D8B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.28 WT1
19 Nuclear 40S maturation defects GR00209-A-2 9.33 NUP160 NUP205 NUP93
20 Nuclear 60S biogenesis defects GR00209-A-3 9.13 NUP160 NUP205 NUP93
21 Nucleoplasmic pre-40S maturation defects GR00209-A-1 8.92 NUP107 NUP160 NUP205 NUP93

MGI Mouse Phenotypes related to Nephrotic Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ARHGDIA EMP2 ITGA3 MAGI2 NPHS2 NUP133
2 renal/urinary system MP:0005367 9.28 ARHGDIA ITGA3 LAMB2 MAGI2 NPHS1 NPHS2

Drugs & Therapeutics for Nephrotic Syndrome

Drugs for Nephrotic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 225)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
2
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
3
Amlodipine Approved Phase 4 88150-42-9 2162
4
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Racepinephrine Approved Phase 4 329-65-7 838
7
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
8
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
9
Ramipril Approved Phase 4 87333-19-5 5362129
10
Cosyntropin Approved Phase 4 16960-16-0 16129617
11
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
12
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
13
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
14
Amiloride Approved Phase 4 2016-88-8, 2609-46-3 16231
15
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
16
Mycophenolic acid Approved Phase 4 24280-93-1 446541
17
Pravastatin Approved Phase 4 81093-37-0 54687
18
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
19
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
20
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
21
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
22
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
23
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
24
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
25
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
26
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
27
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
28 Tocotrienol Investigational Phase 4 6829-55-6
29 Vasodilator Agents Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Angiotensin Receptor Antagonists Phase 4
32 Angiotensin II Type 1 Receptor Blockers Phase 4
33 Angiotensinogen Phase 4
34 Giapreza Phase 4
35 Immunoglobulin A Phase 4
36 Anticonvulsants Phase 4
37 Carbonic Anhydrase Inhibitors Phase 4
38 Epinephryl borate Phase 4
39 Mitogens Phase 4
40 Ergocalciferols Phase 4
41 Vitamin D2 Phase 4
42 Hydrocortisone hemisuccinate Phase 4
43 Hydrocortisone 17-butyrate 21-propionate Phase 4
44 Angiotensin-Converting Enzyme Inhibitors Phase 4
45 calcium channel blockers Phase 4
46 Retinol palmitate Phase 4
47 retinol Phase 4
48 Neurotransmitter Agents Phase 4
49 Antihypertensive Agents Phase 4
50 Antifungal Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 186)
# Name Status NCT ID Phase Drugs
1 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4 long term tapering of prednisolone;standard prednisolone treatment
2 Adjusted Steroid Therapy in Children With Idiopathic Nephrotic Syndrome Unknown status NCT02649413 Phase 4 Prednisone
3 Study of Safety, Immunogenicity and Immunological Memory of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
4 Treatment of Nephrotic Syndrome Relapse With Low Steroid Dose Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
5 Intensive Medical Treatment for Nephropathy Caused by Type 2 Diabetes With Hypertension Unknown status NCT00407680 Phase 4 Intensive therapy Valsartan,Fluvastatin
6 Population Pharmacokinetics of Tacrolimus in Children With Nephrotic Syndrome Completed NCT03347357 Phase 4 Tacrolimus
7 Open-Label, Randomized, Comparative, Multi-Center Clinical Trial on the Therapeutic Effect of Tacrolimus (Prograf Cap.®) in Combination With Low-Dose Corticosteroid Compared With High-Dose Corticosteroid Alone in Patients With Minimal-Change Nephrotic Syndrome (MCNS) Completed NCT01763580 Phase 4 Tacrolimus;Prednisolone
8 A Prospective, Randomized, Open-label Study Evaluating the Efficacy of Mycophenolate Mofetil in the Prevention of Relapse of Steroid Dependent Nephrotic Syndrome in Children Completed NCT01895894 Phase 4 Mycophenolate mofetil
9 The Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
10 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4 Tacrolimus
11 A Randomized, Placebo-Controlled, Parallel-Group, Double-Blind Study of H.P. Acthar Gel (Acthar) in Treatment-Resistant Subjects With Persistent Proteinuria and Nephrotic Syndrome Due to Idiopathic Membranous Nephropathy (iMN) Completed NCT01386554 Phase 4 Repository Corticotropin Injection;Placebo
12 Myfortic® Combined With Low-dose Steroid in Minimal Change Nephrotic Syndrome Completed NCT01185197 Phase 4 Myfortic plus low-dose steroid;Prednisolone
13 Acetazolamide and Hydrochlorothiazide Followed by Furosemide Versus Hydrochlorothiazide and Furosemide Followed by Furosemide for the Treatment of Adults With Refractory Nephrotic Edema: A Randomized, Double-Blind Trial Completed NCT02427880 Phase 4 Acetazolamide and Hydrochlorothiazide Followed by Furosemide;Furosemide and Hydrochlorothiazide Followed by Furosemide
14 Tacrolimus vs Prednisolone for the Treatment Minimal Change Disease Completed NCT00982072 Phase 4 tacrolimus;prednisolone
15 Mycophenolate Mofetil and Tacrolimus vs Tacrolimus Alone for the Treatment of Idiopathic Membranous Glomerulonephritis (IMG) Completed NCT00843856 Phase 4 tacrolimus;tacrolimus and mycophenolate mofetil
16 Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes Completed NCT01021540 Phase 4 Repository corticotrophin
17 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4 Methylprednisolone pulses plus prednisone versus Cyclosporine A
18 "Safety and Efficacy of Acthar Gel on Albuminuria and Urinary Transforming Growth Factor Excretion in Type I or Type II Diabetics Requiring Medical Treatment of Hyperglycemia With Nephrotic Range Proteinuria: A Pilot Study" Completed NCT01028287 Phase 4 ACTH;ACTH
19 The Effect of Renin Angiotensin System Blockage (RAS) Blockade On PTX3 Levels In Diabetic Patients With Proteinuria Completed NCT00674596 Phase 4 ramipril
20 Effect of Calcium Channel Blocker on the Serum Fibrobalst Growth Factor-23 (FGF-23) Levels in Type-2 Diabetic Patients With Proteinuria Purpose Completed NCT01738945 Phase 4 Amlodipine
21 Vitamin D Supplementation in Children and Adolescents Seen in the Paediatric Nephrology Service: Study of the Efficacy of Service Usual Care (Cholecalciferol) and Its Impact on Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
22 Effect of Renin Angiotensin System Blockade on CD95 and ADMA Levels in Type-2 Diabetic Patients With Proteinuria Completed NCT00893425 Phase 4 ramipril
23 The Effects of Renin Angiotensin System Blockage (RAS), Calcium Channel Blocker and Combine Drugs on TWEAK, PTX3 and FMD Levels in Diabetic Proteinuric Patients With Hypertension Completed NCT00921570 Phase 4 Amlodipine;Valsartan
24 FGF-23 and Endothelial Dysfunction in Diabetic Proteinuric Patients Completed NCT01703234 Phase 4 Ramipril
25 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Completed NCT00851942 Phase 4 Synacthen (Tetracosactrin)
26 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
27 The Therapy of Tacrolimus Combined With Entecavir on HBV Associated Glomerulonephritis : A Multicenter, Prospective, Randomized, Controlled, Single-blind Trial. Recruiting NCT03062813 Phase 4 Tacrolimus &entecavir;placebo & entecavir
28 A Prospective Randomized, Controlled Trial of Mycophenolate Mofetil Plus Steroid in the Treatment Of Patients With Progressive Idiopathic Membranous Nephropathy Recruiting NCT03170323 Phase 4 Mycophenolate Mofetil;Cyclosporins
29 Treatment of Primary Minimal Change Nephropathy: A Randomized Open-labeled Non-inferiority Study on Prednisolone and Vitamin D Recruiting NCT03210688 Phase 4 Prednisolone;Alfacalcidol
30 Changes in Autoreactive Memory B Cells as Biomarker of Response to Adrenocorticotropic Hormone in Patients With Membranous Nephropathy Recruiting NCT03025828 Phase 4 ACTHar
31 The Effect and Safety of Amiloride in Decreasing Proteinuria for Patients With Chronic Kidney Disease in a Prospective , Crossover, Open-label Study. Recruiting NCT03170336 Phase 4 Amiloride;Hydrochlorothiazide
32 Study of Tacrolimus vs Mycophenolate Mofetil in Pediatric Patients With Frequently Relapsing or Steroid Dependent Nephrotic Syndrome: a Randomized, Multicenter, Open-label, Parallel-arm Study Not yet recruiting NCT04048161 Phase 4 Tacrolimus;Mycophenolate Mofetil
33 A Multinational Prospective Study on the Duration of Steroid Therapy in Steroid Sensitive Nephrotic Syndrome Not yet recruiting NCT03878914 Phase 4 Corticosteroids
34 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
35 Effect of an Oxidative-Stress-Reducing Strategy Consisting of Pravastatin, Vitamin E and Homocysteine-Lowering on Carotid Intima-Media Thickness in Patients With Mild-to-Moderate Chronic Kidney Disease Terminated NCT00384618 Phase 4 pravastatin;vitamin E
36 ADRENL - ACTHAR Gel for Drug REsistant Nephrotic Syndrome in Children, Pilot Study Withdrawn NCT03408405 Phase 4 Acthar Gel 80 UNT/ML Injectable Solution
37 A Multi-center Randomized Controlled Trial of Rituximab for Refractory Nephrotic Syndrome in Children Unknown status NCT01716442 Phase 2, Phase 3 Rituximab;Placebo
38 A Prospective Interventional Pilot Study on the Use of Valproic Acid for Treatment of Idiopathic Nephrotic Syndrome Unknown status NCT02896270 Phase 2, Phase 3 Valproic Acid
39 Prospective Randomized Multicentric Open Label Study to Evaluate Rituximab Treatment for Idiopathic Membranous Nephropathy (IMN) Unknown status NCT01508468 Phase 3 symptomatic treatment (Converting Enzyme inhibitor, Angiotensin II, Anti-renin, Aldosterone antagonist diuretic, Beta blocker, Calcium inhibitor, statin);experimental (Non Immunosuppressive Symptomatic Treatment (NIST) and Rituximab)
40 A Multi-center, Randomized, Controlled, Open-label Clinical Study to Evaluate the Efficacy and Safety of Mizoribine in Comparison With Cyclophosphamide in the Treatment of Refractory Nephrotic Syndrome Completed NCT02257697 Phase 3 Mizoribine (MZR);Cyclophosphamide (CTX)
41 Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS) Completed NCT00615667 Phase 3 tacrolimus (FK506)
42 The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS) Completed NCT01309477 Phase 3 Tacrolimus Sustained-release Capsules (ADVAGRAF)
43 Phase 3 Study of Tacrolimus Combined With Prednisone Treatment of Idiopathic Membranous Nephropathy and Nephrotic Syndrome Completed NCT00362531 Phase 2, Phase 3 tacrolimus combined with prednisone
44 Cyclophosphamide Versus Mycophenolate Mofetil for Children With Steroid-dependent Idiopathic Nephrotic Syndrome : a Multicenter Randomized Controlled Trial Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
45 A Prospective, Randomized, Double Blind, Placebo-controlled Phase II/III Study Evaluating the Efficacy of Rituximab in the Prevention of Relapse of Calcineurin Inhibitors Dependent Idiopathic Nephrotic Syndrome of Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
46 Clinical Efficacy of Pentoxifylline on Patients With Primary Nephrotic Syndrome Completed NCT00354731 Phase 3 pentoxifylline;Corticosteroid
47 Low Steroid Dose Combined With Mycophenolic Acid (Myfortic) Compared With High Dose Steroid for Minimal Change Nephrotic Syndrome Completed NCT01197040 Phase 3 Prednisone;acid mycophenolic (Myfortic)
48 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome Completed NCT02438982 Phase 3 Tacrolimus;Rituximab
49 Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome Completed NCT02132195 Phase 3 ACTH
50 A Phase II/III Study of the Safety and Efficacy of NC-503 in Patients Suffering From Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)

Search NIH Clinical Center for Nephrotic Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Bendroflumethiazide
benzthiazide
Bumetanide
Chlorothiazide
Chlorothiazide sodium
Chlorthalidone
Cyclophosphamide
cyclothiazide
Ethacrynate Sodium
Ethacrynic Acid
Furosemide
Hydrochlorothiazide
Hydroflumethiazide
Indapamide
Methyclothiazide
Metolazone
Polythiazide
quinethazone
torsemide
Trichlormethiazide

Cochrane evidence based reviews: nephrotic syndrome

Genetic Tests for Nephrotic Syndrome

Genetic tests related to Nephrotic Syndrome:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome 29

Anatomical Context for Nephrotic Syndrome

MalaCards organs/tissues related to Nephrotic Syndrome:

40
Kidney, Liver, Bone, Testes, Lung, Thyroid, T Cells

Publications for Nephrotic Syndrome

Articles related to Nephrotic Syndrome:

(show top 50) (show all 17712)
# Title Authors PMID Year
1
Non-immunologic mechanisms of calcineurin inhibitors explain its antiproteinuric effects in genetic glomerulopathies. 54 61
20195644 2010
2
Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations. 61 54
20191369 2010
3
Effect of angiotensin-converting enzyme gene insertion/deletion polymorphism on steroid resistance in Egyptian children with idiopathic nephrotic syndrome. 54 61
20418353 2010
4
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. 61 54
20497763 2010
5
c-mip impairs podocyte proximal signaling and induces heavy proteinuria. 61 54
20484117 2010
6
Changes in glomerular mesangium in kidneys with congenital nephrotic syndrome of the Finnish type. 54 61
20020158 2010
7
Genetic kidney diseases. 54 61
20382325 2010
8
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome. 54 61
19956976 2010
9
[Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. 54 61
20441703 2010
10
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 54 61
19812541 2009
11
Idiopathic nephrotic syndrome and atopy: is there a common link? 61 54
19556042 2009
12
Use of recombinant human serum albumin in pediatric patients with nephrotic syndrome. 61 54
19475428 2009
13
Nephrotic syndrome in diabetic kidney disease: an evaluation and update of the definition. 54 61
19556043 2009
14
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. 61 54
19495806 2009
15
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. 54 61
19321760 2009
16
Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains. 61 54
19443487 2009
17
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). 54 61
19131354 2009
18
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 61 54
19406966 2009
19
Mesothelioma of the testis and nephrotic syndrome: a case report. 54 61
19830148 2009
20
Association of polymorphisms at restriction enzyme recognition sites of apolipoprotein B and E gene with dyslipidemia in children undergoing primary nephrotic syndrome. 61 54
18512131 2009
21
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 61 54
19127206 2009
22
ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor. 61 54
19404519 2009
23
[Resistance to curative treatment by unfractionned heparin]. 61 54
18814940 2009
24
Randomized cross-over trial comparing albumin and frusemide infusions in nephrotic syndrome. 54 61
19142668 2009
25
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. 54 61
19282856 2009
26
NPHS2 mutations in children with steroid-resistant nephrotic syndrome. 61 54
19395786 2009
27
Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses. 61 54
19153070 2009
28
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. 61 54
19371226 2009
29
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 61 54
19145239 2009
30
Paraneoplastic glomerular diseases and malignancies. 61 54
18790651 2009
31
[Genetic variations of NPHS2 and WT1 genes in 15 Chinese children with sporadic steroid-resistant nephrotic syndrome]. 54 61
19573440 2009
32
Atherosclerosis risk factors in young patients formerly treated for idiopathic nephrotic syndrome. 61 54
18972136 2009
33
A case of membranous nephropathy associated with chronic sinusitis. 54 61
19384848 2009
34
Effects of uroguanylin on natriuresis in experimental nephrotic rats. 54 61
19054333 2009
35
A new link between steroid resistance, glucocorticoid receptor and nuclear factor kappa B p65 in idiopathic nephrotic syndrome. 54 61
20035271 2009
36
Is dyslipidemia sustained during remission of nephrotic syndrome genetically determined? Evaluation of genetic polymorphisms of proteins involved in lipoprotein metabolism in children and adolescents with nephrotic syndrome. 54 61
19341173 2009
37
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. 54 61
19194555 2009
38
The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm. 61 54
18971929 2009
39
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. 54 61
20001346 2009
40
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. 54 61
19562271 2009
41
[Immunosuppressive treatment of idiopathic membranous glomerulonephritis with nephrotic syndrome]. 61 54
20088170 2009
42
Relationship between plasma leptin or soluble cleaved leptin-receptor concentrations and glucocorticoid sensitivity of peripheral blood mononuclear cells in patients with nephrotic syndrome. 54 61
18700169 2008
43
[Successful treatment of early intervention with tacrolimus for a patient with lupus nephritis III+V]. 54 61
19122377 2008
44
Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation. 61 54
19067903 2008
45
[The histological picture of CRF in kidney grafts]. 61 54
19048584 2008
46
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 61 54
18503012 2008
47
The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults. 61 54
18499321 2008
48
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 61 54
18614772 2008
49
[Clinical characteristics and WT1 genetic analysis of patients with steroid-resistant nephrotic syndrome accompanied with genitourinary malformations]. 54 61
19099861 2008
50
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. 54 61
18543005 2008

Variations for Nephrotic Syndrome

ClinVar genetic disease variations for Nephrotic Syndrome:

6 (show top 50) (show all 168) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAT1 NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly)SNV Likely pathogenic 684631 4:187534467-187534467 4:186613313-186613313
2 FAT1 NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr)SNV Likely pathogenic 684632 4:187542069-187542069 4:186620915-186620915
3 FAT1 NM_005245.4(FAT1):c.4517G>A (p.Arg1506His)SNV Likely pathogenic 684630 4:187549724-187549724 4:186628570-186628570
4 FAT1 NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val)SNV Likely pathogenic 684629 4:187627974-187627974 4:186706820-186706820
5 FAT1 NM_005245.4(FAT1):c.857A>G (p.Asn286Ser)SNV Likely pathogenic 684628 4:187630125-187630125 4:186708971-186708971
6 LAMB2 NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=)SNV Conflicting interpretations of pathogenicity 258613 rs148648480 3:49159422-49159422 3:49121989-49121989
7 LAMB2 NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His)SNV Conflicting interpretations of pathogenicity 258610 rs75073433 3:49160755-49160755 3:49123322-49123322
8 PLCE1 NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr)SNV Conflicting interpretations of pathogenicity 260713 rs141639885 10:95931173-95931173 10:94171416-94171416
9 LAMB2 NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)SNV Conflicting interpretations of pathogenicity 258596 rs201999373 3:49167683-49167683 3:49130250-49130250
10 PLCE1 NM_016341.4(PLCE1):c.513G>A (p.Val171=)SNV Conflicting interpretations of pathogenicity 260723 rs61749239 10:95791316-95791316 10:94031559-94031559
11 LAMB2 NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=)SNV Conflicting interpretations of pathogenicity 345972 rs151292828 3:49159017-49159017 3:49121584-49121584
12 LAMB2 NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=)SNV Conflicting interpretations of pathogenicity 345986 rs138540017 3:49161376-49161376 3:49123943-49123943
13 LAMB2 NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg)SNV Conflicting interpretations of pathogenicity 345975 rs200747448 3:49159191-49159191 3:49121758-49121758
14 LAMB2 NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=)SNV Conflicting interpretations of pathogenicity 345979 rs143974640 3:49160567-49160567 3:49123134-49123134
15 LAMB2 NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu)SNV Conflicting interpretations of pathogenicity 345992 rs368506627 3:49162172-49162172 3:49124739-49124739
16 LAMB2 NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val)SNV Conflicting interpretations of pathogenicity 345974 rs199580679 3:49159190-49159190 3:49121757-49121757
17 LAMB2 NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)SNV Conflicting interpretations of pathogenicity 346008 rs151251039 3:49168482-49168482 3:49131049-49131049
18 LAMB2 NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys)SNV Conflicting interpretations of pathogenicity 345988 rs79677861 3:49161830-49161830 3:49124397-49124397
19 PLCE1 NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile)SNV Conflicting interpretations of pathogenicity 301708 rs61751497 10:96006010-96006010 10:94246253-94246253
20 PLCE1 NM_016341.4(PLCE1):c.3183C>T (p.Pro1061=)SNV Conflicting interpretations of pathogenicity 301711 rs367640320 10:96012159-96012159 10:94252402-94252402
21 LAMB2 NM_002292.4(LAMB2):c.2922G>C (p.Gly974=)SNV Conflicting interpretations of pathogenicity 345994 rs145465720 3:49162321-49162321 3:49124888-49124888
22 LAMB2 NM_002292.4(LAMB2):c.740T>C (p.Val247Ala)SNV Uncertain significance 346009 rs747693090 3:49168558-49168558 3:49131125-49131125
23 LAMB2 NM_002292.4(LAMB2):c.-112A>TSNV Uncertain significance 346015 rs546461860 3:49170412-49170412 3:49132979-49132979
24 LAMB2 NM_002292.3(LAMB2):c.-279A>TSNV Uncertain significance 346020 rs886058682 3:49170579-49170579 3:49133146-49133146
25 PLCE1 NM_016341.4(PLCE1):c.*219C>GSNV Uncertain significance 301738 rs376587612 10:96087919-96087919 10:94328162-94328162
26 PLCE1 NM_016341.4(PLCE1):c.*220T>GSNV Uncertain significance 301739 rs184484950 10:96087920-96087920 10:94328163-94328163
27 PLCE1 NM_016341.4(PLCE1):c.*390A>GSNV Uncertain significance 301742 rs886047507 10:96088090-96088090 10:94328333-94328333
28 PLCE1 NM_016341.4(PLCE1):c.3279+4G>TSNV Uncertain significance 301712 rs886047500 10:96012259-96012259 10:94252502-94252502
29 PLCE1 NM_016341.4(PLCE1):c.3279+12T>CSNV Uncertain significance 301713 rs139184808 10:96012267-96012267 10:94252510-94252510
30 PLCE1 NM_016341.4(PLCE1):c.3579C>T (p.His1193=)SNV Uncertain significance 301715 rs368956195 10:96018581-96018581 10:94258824-94258824
31 PLCE1 NM_016341.4(PLCE1):c.4341G>C (p.Met1447Ile)SNV Uncertain significance 301720 rs766196444 10:96028745-96028745 10:94268988-94268988
32 PLCE1 NM_016341.4(PLCE1):c.4412G>A (p.Arg1471His)SNV Uncertain significance 301721 rs199793703 10:96030265-96030265 10:94270508-94270508
33 PLCE1 NM_016341.4(PLCE1):c.5175T>C (p.Cys1725=)SNV Uncertain significance 301729 rs752359550 10:96058143-96058143 10:94298386-94298386
34 PLCE1 NM_016341.4(PLCE1):c.5840C>T (p.Ala1947Val)SNV Uncertain significance 301732 rs763348713 10:96066401-96066401 10:94306644-94306644
35 PLCE1 NM_016341.4(PLCE1):c.6364G>A (p.Val2122Ile)SNV Uncertain significance 301733 rs528942664 10:96081679-96081679 10:94321922-94321922
36 PLCE1 NM_016341.4(PLCE1):c.6720+10A>GSNV Uncertain significance 301734 rs752683058 10:96084334-96084334 10:94324577-94324577
37 PLCE1 NM_016341.4(PLCE1):c.323A>G (p.Asn108Ser)SNV Uncertain significance 301682 rs886047493 10:95791126-95791126 10:94031369-94031369
38 PLCE1 NM_016341.4(PLCE1):c.459A>G (p.Gln153=)SNV Uncertain significance 301684 rs886047494 10:95791262-95791262 10:94031505-94031505
39 PLCE1 NM_016341.4(PLCE1):c.642A>T (p.Gly214=)SNV Uncertain significance 301687 rs149064632 10:95791445-95791445 10:94031688-94031688
40 PLCE1 NM_016341.4(PLCE1):c.664G>C (p.Gly222Arg)SNV Uncertain significance 301688 rs373215088 10:95791467-95791467 10:94031710-94031710
41 PLCE1 NM_016341.4(PLCE1):c.1090A>G (p.Ile364Val)SNV Uncertain significance 301692 rs372621219 10:95791893-95791893 10:94032136-94032136
42 PLCE1 NM_016341.4(PLCE1):c.1313T>C (p.Val438Ala)SNV Uncertain significance 301694 rs199689540 10:95892037-95892037 10:94132280-94132280
43 PLCE1 NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val)SNV Uncertain significance 301700 rs61751494 10:95931011-95931011 10:94171254-94171254
44 PLCE1 NM_016341.4(PLCE1):c.2428A>G (p.Ile810Val)SNV Uncertain significance 301705 rs78217273 10:96005710-96005710 10:94245953-94245953
45 PLCE1 NM_016341.4(PLCE1):c.3876G>A (p.Ser1292=)SNV Uncertain significance 301716 rs886047501 10:96022312-96022312 10:94262555-94262555
46 PLCE1 NM_016341.4(PLCE1):c.4733A>T (p.Asn1578Ile)SNV Uncertain significance 301723 rs61732525 10:96039606-96039606 10:94279849-94279849
47 PLCE1 NM_016341.4(PLCE1):c.-287G>ASNV Uncertain significance 301672 rs17506379 10:95790517-95790517 10:94030760-94030760
48 PLCE1 NM_016341.4(PLCE1):c.227C>A (p.Ala76Glu)SNV Uncertain significance 301680 rs61749238 10:95791030-95791030 10:94031273-94031273
49 PLCE1 NM_016341.4(PLCE1):c.296C>T (p.Ala99Val)SNV Uncertain significance 301681 rs761055810 10:95791099-95791099 10:94031342-94031342
50 PLCE1 NM_016341.4(PLCE1):c.633C>T (p.Asp211=)SNV Uncertain significance 301686 rs201117145 10:95791436-95791436 10:94031679-94031679

Expression for Nephrotic Syndrome

Search GEO for disease gene expression data for Nephrotic Syndrome.

Pathways for Nephrotic Syndrome

Pathways related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 NUP93 NUP205 NUP160 NUP133 NUP107
2
Show member pathways
12.52 NUP93 NUP205 NUP160 NUP133 NUP107
3
Show member pathways
12.48 NUP93 NUP205 NUP160 NUP133 NUP107
4
Show member pathways
12.36 NUP93 NUP205 NUP160 NUP133 NUP107
5
Show member pathways
12.29 NUP93 NUP205 NUP160 NUP133 NUP107
6
Show member pathways
12.14 NUP93 NUP205 NUP160 NUP133 NUP107
7
Show member pathways
11.95 NUP93 NUP205 NUP160 NUP133 NUP107
8 11.87 NUP93 NUP205 NUP160 NUP133 NUP107
9
Show member pathways
11.77 NUP93 NUP205 NUP160 NUP133 NUP107
10
Show member pathways
11.35 NUP93 NUP205 NUP160 NUP133 NUP107
11 11.04 WT1 PTPRO PLCE1 NPHS2 NPHS1 LAMB2
12 10.85 NPHS1 MAGI2

GO Terms for Nephrotic Syndrome

Cellular components related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.33 SGPL1 PTPRO PLCE1 NUP93 NUP205 NUP133
2 nuclear envelope GO:0005635 9.77 NUP93 NUP205 NUP160 NUP133 NUP107
3 nuclear membrane GO:0031965 9.71 NUP93 NUP205 NUP133 NUP107
4 kinetochore GO:0000776 9.65 NUP160 NUP133 NUP107
5 nuclear periphery GO:0034399 9.5 NUP93 NUP205 NUP107
6 extrinsic component of mitochondrial inner membrane GO:0031314 9.43 COQ8B COQ6
7 nuclear pore outer ring GO:0031080 9.43 NUP160 NUP133 NUP107
8 nuclear pore GO:0005643 9.35 NUP93 NUP205 NUP160 NUP133 NUP107
9 slit diaphragm GO:0036057 9.33 NPHS2 NPHS1 MAGI2
10 host cell GO:0043657 9.02 NUP93 NUP205 NUP160 NUP133 NUP107

Biological processes related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10 NUP93 NUP205 NUP160 NUP133 NUP107
2 viral process GO:0016032 9.97 NUP93 NUP205 NUP160 NUP133 NUP107
3 mRNA transport GO:0051028 9.88 NUP93 NUP205 NUP160 NUP133 NUP107
4 viral transcription GO:0019083 9.85 NUP93 NUP205 NUP160 NUP133 NUP107
5 mRNA export from nucleus GO:0006406 9.83 NUP93 NUP205 NUP160 NUP133 NUP107
6 regulation of gene silencing by miRNA GO:0060964 9.8 NUP93 NUP205 NUP160 NUP133 NUP107
7 regulation of cellular response to heat GO:1900034 9.77 NUP93 NUP205 NUP160 NUP133 NUP107
8 protein import into nucleus GO:0006606 9.76 NUP93 NUP133 NUP107
9 protein sumoylation GO:0016925 9.72 NUP93 NUP205 NUP160 NUP133 NUP107
10 nuclear pore complex assembly GO:0051292 9.69 NUP93 NUP205 NUP107
11 glomerulus development GO:0032835 9.67 WT1 PTPRO PLCE1
12 intracellular transport of virus GO:0075733 9.65 NUP93 NUP205 NUP160 NUP133 NUP107
13 female gonad development GO:0008585 9.61 SGPL1 NUP107
14 ubiquinone biosynthetic process GO:0006744 9.59 COQ8B COQ6
15 glomerular basement membrane development GO:0032836 9.57 WT1 NPHS1
16 glomerular visceral epithelial cell development GO:0072015 9.56 NPHS1 MAGI2
17 glomerular visceral epithelial cell differentiation GO:0072112 9.55 WT1 PTPRO
18 regulation of glomerular filtration GO:0003093 9.54 PTPRO EMP2
19 metanephric glomerular visceral epithelial cell development GO:0072249 9.52 NPHS2 LAMB2
20 nephron development GO:0072006 9.46 NUP160 NUP133 NUP107 ITGA3
21 regulation of glycolytic process GO:0006110 9.35 NUP93 NUP205 NUP160 NUP133 NUP107
22 tRNA export from nucleus GO:0006409 9.02 NUP93 NUP205 NUP160 NUP133 NUP107

Molecular functions related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 WT1 TBC1D8B SGPL1 PTPRO PLCE1 NUP93
2 integrin binding GO:0005178 9.33 LAMB2 ITGA3 EMP2
3 structural constituent of nuclear pore GO:0017056 9.02 NUP93 NUP205 NUP160 NUP133 NUP107

Sources for Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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44 MESH via Orphanet
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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