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MCID: NPH012
MIFTS: 63

Nephrotic Syndrome

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Nephrotic Syndrome

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MalaCards integrated aliases for Nephrotic Syndrome:

Name: Nephrotic Syndrome 12 77 38 30 56 6 45 15 41 17 74
Finnish Congenital Nephrotic Syndrome 74

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases Blood diseases Endocrine diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:1184
KEGG 38 H01657
ICD9CM 36 581
MeSH 45 D009404
NCIt 51 C34845
SNOMED-CT 69 52254009
ICD10 34 N04 N04.9
Sources

Summaries for Nephrotic Syndrome

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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.

MalaCards based summary : Nephrotic Syndrome, also known as finnish congenital nephrotic syndrome, is related to nephrotic syndrome, type 1 and familial nephrotic syndrome, 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 Transport of the SLBP independent Mature mRNA and mRNA Splicing - Major Pathway. The drugs Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and thyroid, and related phenotypes are Decreased viability of wild-type and TP53 knockout cells and Increased caspase activity

Wikipedia : 77 Nephrotic syndrome is a collection of symptoms due to kidney damage. This includes protein in the urine,... more...

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Related Diseases for Nephrotic Syndrome

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Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
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
Familial Nephrotic Syndrome

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

(show top 50) (show all 736)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 1 34.5 NPHS1 NPHS2 WT1
2 familial nephrotic syndrome 34.2 NPHS1 NPHS2 PLCE1 WT1
3 nephrotic syndrome, type 6 33.7 ARHGDIA EMP2 NPHS1 NPHS2 NUP93 PLCE1
4 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 33.7 PLCE1 WT1
5 pierson syndrome 33.6 LAMB2 NPHS2
6 galloway-mowat syndrome 33.3 NPHS1 NPHS2 NUP107
7 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 32.8 COQ8B NPHS1 NPHS2 NUP107 NUP205 NUP93
8 hypoparathyroidism, sensorineural deafness, and renal disease 32.8 LAMB2 NPHS1 NPHS2
9 denys-drash syndrome 32.7 NPHS1 NPHS2 WT1
10 focal segmental glomerulosclerosis 32.5 COQ6 LAMB2 NPHS1 NPHS2 NUP107 PLCE1
11 frasier syndrome 32.5 NPHS1 NPHS2 PLCE1 WT1
12 diffuse mesangial sclerosis 32.0 ARHGDIA LAMB2 NPHS1 NPHS2 PLCE1 WT1
13 end stage renal failure 29.7 COQ6 NPHS1 NPHS2 PLCE1 WT1
14 nephrotic syndrome, type 2 12.6
15 nephrotic syndrome, type 5, with or without ocular abnormalities 12.6
16 nephrotic syndrome, type 3 12.6
17 nephrotic syndrome, type 14 12.5
18 nephrotic syndrome, type 9 12.5
19 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 12.5
20 nephrotic syndrome, type 12 12.5
21 nephrotic syndrome, type 8 12.5
22 nephrotic syndrome, type 11 12.5
23 nephrotic syndrome, type 15 12.5
24 nephrotic syndrome, type 13 12.5
25 nephrotic syndrome, type 10 12.5
26 nephrotic syndrome, type 16 12.5
27 nephrotic syndrome, type 7 12.5
28 congenital nephrotic syndrome finnish type 12.5
29 nephrotic syndrome, type 17 12.4
30 nephrotic syndrome, type 18 12.4
31 nephrotic syndrome, type 19 12.4
32 nephrotic syndrome, type 4 12.4
33 lipoid nephrosis 12.3
34 nephrotic syndrome, idiopathic, steroid-resistant 12.3
35 nephrotic syndrome ocular anomalies 12.2
36 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 12.2
37 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis 12.2
38 coenzyme q10 deficiency, primary, 6 12.1
39 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 12.1
40 sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 12.1
41 idiopathic steroid-sensitive nephrotic syndrome with minimal change 12.1
42 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation 12.1
43 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy 12.1
44 leigh syndrome with nephrotic syndrome 12.0
45 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome 12.0
46 galloway-mowat syndrome 1 11.9
47 focal segmental glomerulosclerosis 4 11.9
48 focal segmental glomerulosclerosis 1 11.8
49 membranous nephropathy 11.6
50 focal segmental glomerulosclerosis 6 11.5

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



Diseases related to Nephrotic Syndrome
Sources

Symptoms & Phenotypes for Nephrotic Syndrome

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UMLS symptoms related to Nephrotic Syndrome:


edema

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 9.8 ITGA3 NUP107 NUP133 NUP205 NUP93 SMARCAL1
2 Increased caspase activity GR00400-S-1 9.73 NUP133 NUP85
3 Increased caspase activity GR00400-S-2 9.73 NUP133 NUP205 NUP85 NUP93
4 Decreased p24 protein expression GR00163-A-1 9.67 NUP107 NUP133 NUP160 NUP85
5 Nuclear 40S maturation defects GR00209-A-2 9.33 NUP160 NUP205 NUP93
6 Nuclear 60S biogenesis defects GR00209-A-3 9.13 NUP160 NUP205 NUP93
7 Nucleolar pre-40S maturation defects GR00209-A-1 9.02 NUP107 NUP160 NUP205 NUP85 NUP93

MGI Mouse Phenotypes related to Nephrotic Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 ARHGDIA COQ6 ITGA3 LAMB2 MAGI2 NPHS1
2 cardiovascular system MP:0005385 9.91 ARHGDIA EMP2 ITGA3 MAGI2 NPHS2 NUP133
3 mortality/aging MP:0010768 9.73 ARHGDIA COQ6 ITGA3 LAMB2 MAGI2 NPHS1
4 renal/urinary system MP:0005367 9.28 ARHGDIA ITGA3 LAMB2 MAGI2 NPHS1 NPHS2
Sources

Drugs & Therapeutics for Nephrotic Syndrome

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

(show top 50) (show all 201)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 302-25-0
2
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 83-43-2 6741
4
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
5
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Not Applicable 2921-57-5
6
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 53-03-2 5865
7
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2 104987-11-3 6473866 445643 439492
8
rituximab Approved Phase 4,Phase 2,Phase 3 174722-31-7 10201696
9
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
10
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
11
Furosemide Approved, Vet_approved Phase 4,Not Applicable 54-31-9 3440
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
13
Pravastatin Approved Phase 4,Phase 1 81093-37-0 54687
14
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
15
Tocopherol Approved, Investigational Phase 4 1406-66-2 14986
16
Calcium Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 7440-70-2 271
17
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 1406-16-2
18
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
19
Vitamin D3 Approved, Nutraceutical Phase 4,Not Applicable 67-97-0 5280795 6221
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
21
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
23
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Phase 2,Not Applicable 2920-86-7
24 Tocotrienol Investigational Phase 4 6829-55-6
25 Methylprednisolone Acetate Phase 4,Phase 3,Phase 2,Not Applicable
26 Prednisolone acetate Phase 4,Phase 3,Phase 2,Not Applicable
27 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
29 Vaccines Phase 4
30 Cyclosporins Phase 4,Phase 2
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
33 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
34 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
35 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
38 Antiemetics Phase 4,Phase 3,Phase 2,Not Applicable
39 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Not Applicable
40 Autonomic Agents Phase 4,Phase 3,Phase 2,Not Applicable
41 Protective Agents Phase 4,Phase 3,Not Applicable
42 Neuroprotective Agents Phase 4,Phase 3,Not Applicable
43 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Not Applicable
44 Calcineurin Inhibitors Phase 4,Phase 2,Phase 3
45 Adrenocorticotropic Hormone Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 beta-endorphin Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Melanocyte-Stimulating Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Natriuretic Agents Phase 4,Phase 3,Not Applicable
49 diuretics Phase 4,Phase 3,Not Applicable
50 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 137)
# Name Status NCT ID Phase Drugs
1 Study of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
2 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
3 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4 long term tapering of prednisolone;standard prednisolone treatment
4 Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome Completed NCT01895894 Phase 4 Mycophenolate mofetil
5 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4 Tacrolimus
6 Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
7 A Study to Evaluate the Effect of Tacrolimus and Corticosteroid Combination Therapy in Patients With Minimal Change Nephrotic Syndrome Completed NCT01763580 Phase 4 Tacrolimus;Prednisolone
8 Myfortic® for Minimal Change Nephrotic Syndrome (MCNS): a Randomized Study Completed NCT01185197 Phase 4 Myfortic plus low-dose steroid;Prednisolone
9 Pharmacokinetics of Tacrolimus in Children Completed NCT03347357 Phase 4 Tacrolimus
10 Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes Completed NCT01021540 Phase 4 Repository corticotrophin
11 Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema Completed NCT02427880 Phase 4 Acetazolamide and Hydrochlorothiazide Followed by Furosemide;Furosemide and Hydrochlorothiazide Followed by Furosemide
12 Acthar for Treatment of Proteinuria in Membranous Nephropathy Patients Completed NCT01386554 Phase 4 Repository Corticotropin Injection;Placebo
13 Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN) Completed NCT01028287 Phase 4 ACTH;ACTH
14 Mycophenolate Mofetil and Tacrolimus Versus Tacrolimus for the Treatment of Idiopathic Membranous Glomerulonephritis (IMG) Completed NCT00843856 Phase 4 tacrolimus;tacrolimus and mycophenolate mofetil
15 Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
16 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4 Methylprednisolone pulses plus prednisone versus Cyclosporine A
17 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
18 Tacrolimus Versus Prednisolone for the Treatment of Minimal Change Disease Recruiting NCT00982072 Phase 4 tacrolimus;prednisolone
19 Tacrolimus Combined With Entecavir on HBV Associated Glomerulonephritis(HBV-GN) Recruiting NCT03062813 Phase 4 Tacrolimus &entecavir;placebo & entecavir
20 Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy Recruiting NCT03210688 Phase 4 Prednisolone;Alfacalcidol
21 Mycophenolate Mofetil Plus Steroid in the Treatment Of Patients With Progressive Idiopathic Membranous Nephropathy Recruiting NCT03170323 Phase 4 Mycophenolate Mofetil;Cyclosporins
22 Adjusted Steroids Therapy in Childerens With Idiopathic Nephrotic Syndrome Not yet recruiting NCT02649413 Phase 4 Prednisone
23 Steroid Sensitive Nephrotic Syndrome in Children Not yet recruiting NCT03878914 Phase 4 Corticosteroids
24 Anti-Oxidant Therapy In Chronic Renal Insufficiency (ATIC) Study Terminated NCT00384618 Phase 4 pravastatin;vitamin E
25 ACTHAR Gel for Drug REsistant Nephrotic Syndrome in Children Withdrawn NCT03408405 Phase 4 Acthar Gel 80 UNT/ML Injectable Solution
26 Rituximab Trial for Pediatric Nephrotic Syndrome Unknown status NCT01716442 Phase 2, Phase 3 Rituximab;Placebo
27 Evaluate Rituximab Treatment for Idiopathic Membranous Nephropathy 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)
28 Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome Completed NCT02132195 Phase 3 ACTH
29 Efficacy of Rituximab For the Treatment of Calcineurin Inhibitors Dependent Nephrotic Syndrome During Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
30 Cyclophosphamide Versus Mycophenolate Mofetil for the Treatment of Steroid-dependent Nephrotic Syndrome in Children Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
31 Efficacy of Pentoxifylline on Primary Nephrotic Syndrome Completed NCT00354731 Phase 3 pentoxifylline;Corticosteroid
32 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome Completed NCT02438982 Phase 3 Tacrolimus;Rituximab
33 A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome Completed NCT02257697 Phase 3 Mizoribine (MZR);Cyclophosphamide (CTX)
34 Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome Completed NCT01197040 Phase 3 Prednisone;acid mycophenolic (Myfortic)
35 The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS) Completed NCT01309477 Phase 3 Tacrolimus Sustained-release Capsules (ADVAGRAF)
36 Tacrolimus Combined With Prednisone Treatment of Idiopathic Membranous Nephropathy and Nephrotic Syndrome Completed NCT00362531 Phase 2, Phase 3 tacrolimus combined with prednisone
37 Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS) Completed NCT00615667 Phase 3 tacrolimus (FK506)
38 Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00981838 Phase 3 Rituximab
39 Steroid Treatment for Kidney Disease Completed NCT00065611 Phase 3 Oral dexamethasone
40 Rituximab in Membranous Nephropathy Completed NCT00425217 Phase 2, Phase 3 Rituximab
41 Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
42 Therapeutic Effect of Tacrolimus in Combination With Low Dose Corticosteroid in Adult Patient With Minimal Change Nephritic Syndrome Completed NCT01084980 Phase 2, Phase 3 Tacrolimus
43 Prednisolone Trial in Children Younger Than 4 Years Recruiting NCT03141970 Phase 3 Prednisolone
44 Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome Recruiting NCT03501459 Phase 3 Rituximab
45 Efficiency of Levamisole for Maintaining Remission After the First Flare of Steroid Sensitive Nephrotic Syndrome in Children Recruiting NCT02818738 Phase 3 Levamisole Hydrochloride
46 Compare Efficacy and Safety of Repeated Courses of Rituximab to That of Maintenance Mycophenolate Mofetil Following Single Course of Rituximab Among Children With Steroid Dependent Nephrotic Syndrome Recruiting NCT03899103 Phase 3 Rituximab;Mycophenolate Mofetil
47 Efficacy and Safety of Immunoglobulin Associated With Rituximab Versus Rituximab Alone in Childhood-Onset Steroid-dependent Nephrotic Syndrome Recruiting NCT03560011 Phase 2, Phase 3 immunoglobulin IV
48 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Recruiting NCT03298698 Phase 3 Rituximab;Prednisone
49 Valproic Acid for Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
50 Rituximab Versus Steroids and Cyclophosphamide in the Treatment of Idiopathic Membranous Nephropathy Active, not recruiting NCT03018535 Phase 3 Rituximab;Methylprednisolone;Cyclophosphamide

Search NIH Clinical Center for Nephrotic Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: nephrotic syndrome

Sources

Genetic Tests for Nephrotic Syndrome

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Genetic tests related to Nephrotic Syndrome:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome 30
Sources

Anatomical Context for Nephrotic Syndrome

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MalaCards organs/tissues related to Nephrotic Syndrome:

42
Kidney, Bone, Thyroid, T Cells, Testes, Myeloid, B Cells
Sources

Publications for Nephrotic Syndrome

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Articles related to Nephrotic Syndrome:

(show top 50) (show all 4295)
# Title Authors Year
1
Radiologically Guided Renal Artery Embolization with an Amplatzer Vascular Plug as a Rescue Therapy for Refractory Nephrotic Syndrome in AL-Amyloidosis. ( 30886753 )
2019
2
Prevalence of Asthma and Allergies and Risk of Relapse in Childhood Nephrotic Syndrome: Insight into Nephrotic Syndrome Cohort. ( 30732999 )
2019
3
Clinical Features of Nephrotic Syndrome with Cerebral Hemorrhage. ( 30904921 )
2019
4
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. ( 30963316 )
2019
5
Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Questions. ( 30963281 )
2019
6
Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Answers. ( 30963284 )
2019
7
Disseminated Intravascular Coagulation-like Reaction after Rituximab Infusion in a Patient with Nephrotic Syndrome: A Case Report. ( 30918180 )
2019
8
Reactivation of resolved hepatitis B virus infection combined with nephrotic syndrome in a patient after allogeneic haematopoietic stem cell transplantation. ( 30651070 )
2019
9
Acute Lymphoblastic Leukemia Occurring Five Years After Onset of Steroid Resistant Nephrotic Syndrome. ( 31020595 )
2019
10
Dasatinib-induced nephrotic syndrome in a patient with chronic myelogenous leukemia: a case report. ( 30845905 )
2019
11
Lipomatosis of spinal epidural space, peritoneum, and renal sinus: a rare complication of long-term steroid therapy in a child with nephrotic syndrome. ( 30941508 )
2019
12
A young Chinese man with nephrotic syndrome due to lipoprotein glomerulopathy. ( 30685233 )
2019
13
Nephrotic syndrome: first presentation of lymphoepithelioma-like thymic carcinoma. ( 30592665 )
2019
14
Nephrotic syndrome and mitochondrial disorders: answers. ( 30863911 )
2019
15
Randomized controlled trial on immunomodulatory effects of azithromycin in children with steroid-dependent nephrotic syndrome. ( 31089818 )
2019
16
Spontaneous femoral artery thrombosis in childhood-onset nephrotic syndrome. ( 31090123 )
2019
17
Nephrotic Syndrome. ( 30454752 )
2019
18
Retinal and choroidal thickness in paediatric patients with hypoalbuminaemia caused by nephrotic syndrome. ( 30727992 )
2019
19
Nephrotic syndrome co-existing with type 1 diabetes in a 12-year-old boy: Case report and literature review. ( 30728982 )
2019
20
Clinical course & management of childhood nephrotic syndrome in Germany: a large epidemiological ESPED study. ( 30732569 )
2019
21
A longitudinal study on the effects of psychological stress on proteinuria in childhood steroid-sensitive nephrotic syndrome. ( 30739735 )
2019
22
miR-939-5p decreases the enrichment of RNA polymerase II in the promoter region of CD2AP involved in nephrotic syndrome. ( 30756418 )
2019
23
Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update. ( 30761277 )
2019
24
Repository Corticotropin Versus Glucocorticoid for Nephrotic Syndrome: When Will We See the Evidence? ( 30765104 )
2019
25
The quest for optimal control of relapses in children with nephrotic syndrome. ( 30784663 )
2019
26
Efficacy of Mycophenolate Mofetil as a Remission Maintaining Agent in Idiopathic Childhood Nephrotic Syndrome. ( 30814791 )
2019
27
Profile of Acute Kidney Injury in Hospitalized Children with Idiopathic Nephrotic Syndrome. ( 30819990 )
2019
28
Nephrotic syndrome in a dish: recent developments in modeling in vitro. ( 30820702 )
2019
29
Outcomes of Older Patients (≥60 years) with New-Onset Idiopathic Nephrotic Syndrome Receiving Immunosuppressive Regimen: A Multicentre Study of 116 Patients. ( 30832362 )
2019
30
Electron microscopic findings suggestive of focal and segmental glomerulosclerosis in patients with steroid-resistant nephrotic syndrome. ( 30835594 )
2019
31
Neurological complications in childhood nephrotic syndrome: A systematic review. ( 30837193 )
2019
32
Usefulness of mizoribine administration in children with frequently relapsing nephrotic syndrome, and the relationship between pharmacokinetic parameters and efficacy: a multicenter prospective cohort study in China. ( 30864060 )
2019
33
Predictors of rituximab-related neutropenia in Japanese children with steroid-dependent nephrotic syndrome. ( 30887110 )
2019
34
Concerning "Acute kidney injury complicating nephrotic syndrome of minimal change disease". ( 30904072 )
2019
35
Treatment of nephrotic syndrome: going beyond immunosuppressive therapy. ( 30904930 )
2019
36
Nephrotic Syndrome and a Maculopapular Rash. ( 30905362 )
2019
37
Nephrotic syndrome in relation to treatment with ustekinumab. ( 30107955 )
2019
38
Effect of different rituximab regimens on B cell depletion and time to relapse in children with steroid-dependent nephrotic syndrome. ( 30109447 )
2019
39
Positive effects of single-daily high-dose mizoribine therapy after cyclophosphamide in young children with steroid-dependent nephrotic syndrome. ( 30121800 )
2019
40
Therapeutic efficacy of rituximab for the management of adult-onset steroid-dependent nephrotic syndrome: a retrospective study. ( 30121802 )
2019
41
Auto-immune Thyroiditis in an Infant Masquerading as Congenital Nephrotic Syndrome. ( 30128632 )
2019
42
Periodically repeated rituximab administrations in children with refractory nephrotic syndrome: 2-year multicenter observational study. ( 30141179 )
2019
43
Efficacy of low-dose daily versus alternate-day prednisolone in frequently relapsing nephrotic syndrome: an open-label randomized controlled trial. ( 30194663 )
2019
44
Association of infections and venous thromboembolism in hospitalized children with nephrotic syndrome. ( 30194664 )
2019
45
Risk factors for early B cell recovery following single-dose rituximab therapy in Japanese children with steroid-dependent nephrotic syndrome. ( 30196382 )
2019
46
Association of HLA-DQA1 gene polymorphisms with the risk of children primary nephrotic syndrome in Chinese population. ( 30006974 )
2019
47
The Canadian childhood nephrotic syndrome (CHILDNEPH) study: report on mid-study feasibility, recruitment and main measures. ( 31088399 )
2019
48
Evaluation of thyroid dysfunction in patients with nephrotic syndrome. ( 31086841 )
2019
49
Ectopic expression of CLDN2 in podocytes is associated with childhood onset nephrotic syndrome. ( 31086291 )
2019
50
Outcome of participants with nephrotic syndrome in combined clinical trials of lupus nephritis. ( 31080631 )
2019
Sources

Variations for Nephrotic Syndrome

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ClinVar genetic disease variations for Nephrotic Syndrome:

6 (show top 50) (show all 320)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPC6 NM_004621.5(TRPC6): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs869025541 GRCh38 Chromosome 11, 101504446: 101504446
2 TRPC6 NM_004621.5(TRPC6): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs869025541 GRCh37 Chromosome 11, 101375177: 101375177
3 LAMB2 NM_002292.3(LAMB2): c.5293G> A (p.Ala1765Thr) single nucleotide variant Benign/Likely benign rs74951356 GRCh38 Chromosome 3, 49121330: 49121330
4 LAMB2 NM_002292.3(LAMB2): c.5293G> A (p.Ala1765Thr) single nucleotide variant Benign/Likely benign rs74951356 GRCh37 Chromosome 3, 49158763: 49158763
5 LAMB2 NM_002292.3(LAMB2): c.4878G> A (p.Arg1626=) single nucleotide variant Conflicting interpretations of pathogenicity rs148648480 GRCh37 Chromosome 3, 49159422: 49159422
6 LAMB2 NM_002292.3(LAMB2): c.4878G> A (p.Arg1626=) single nucleotide variant Conflicting interpretations of pathogenicity rs148648480 GRCh38 Chromosome 3, 49121989: 49121989
7 LAMB2 NM_002292.3(LAMB2): c.4774C> T (p.Arg1592Trp) single nucleotide variant Benign/Likely benign rs61729458 GRCh38 Chromosome 3, 49122170: 49122170
8 LAMB2 NM_002292.3(LAMB2): c.4774C> T (p.Arg1592Trp) single nucleotide variant Benign/Likely benign rs61729458 GRCh37 Chromosome 3, 49159603: 49159603
9 LAMB2 NM_002292.3(LAMB2): c.4034G> A (p.Arg1345His) single nucleotide variant Conflicting interpretations of pathogenicity rs75073433 GRCh37 Chromosome 3, 49160755: 49160755
10 LAMB2 NM_002292.3(LAMB2): c.4034G> A (p.Arg1345His) single nucleotide variant Conflicting interpretations of pathogenicity rs75073433 GRCh38 Chromosome 3, 49123322: 49123322
11 LAMB2 NM_002292.3(LAMB2): c.3387A> G (p.Gln1129=) single nucleotide variant Benign/Likely benign rs34290943 GRCh37 Chromosome 3, 49161660: 49161660
12 LAMB2 NM_002292.3(LAMB2): c.3387A> G (p.Gln1129=) single nucleotide variant Benign/Likely benign rs34290943 GRCh38 Chromosome 3, 49124227: 49124227
13 LAMB2 NM_002292.3(LAMB2): c.2959G> A (p.Glu987Lys) single nucleotide variant Benign/Likely benign rs34759087 GRCh37 Chromosome 3, 49162284: 49162284
14 LAMB2 NM_002292.3(LAMB2): c.2959G> A (p.Glu987Lys) single nucleotide variant Benign/Likely benign rs34759087 GRCh38 Chromosome 3, 49124851: 49124851
15 LAMB2 NM_002292.3(LAMB2): c.2740G> A (p.Gly914Arg) single nucleotide variant Benign/Likely benign rs35713889 GRCh38 Chromosome 3, 49125150: 49125150
16 LAMB2 NM_002292.3(LAMB2): c.2740G> A (p.Gly914Arg) single nucleotide variant Benign/Likely benign rs35713889 GRCh37 Chromosome 3, 49162583: 49162583
17 LAMB2 NM_002292.3(LAMB2): c.1764C> T (p.Pro588=) single nucleotide variant Benign/Likely benign rs33942096 GRCh38 Chromosome 3, 49128787: 49128787
18 LAMB2 NM_002292.3(LAMB2): c.1764C> T (p.Pro588=) single nucleotide variant Benign/Likely benign rs33942096 GRCh37 Chromosome 3, 49166220: 49166220
19 LAMB2 NM_002292.3(LAMB2): c.1206G> A (p.Arg402=) single nucleotide variant Conflicting interpretations of pathogenicity rs201999373 GRCh38 Chromosome 3, 49130250: 49130250
20 LAMB2 NM_002292.3(LAMB2): c.1206G> A (p.Arg402=) single nucleotide variant Conflicting interpretations of pathogenicity rs201999373 GRCh37 Chromosome 3, 49167683: 49167683
21 LAMB2 NM_002292.3(LAMB2): c.1193C> T (p.Thr398Ile) single nucleotide variant Benign/Likely benign rs77500937 GRCh37 Chromosome 3, 49167696: 49167696
22 LAMB2 NM_002292.3(LAMB2): c.1193C> T (p.Thr398Ile) single nucleotide variant Benign/Likely benign rs77500937 GRCh38 Chromosome 3, 49130263: 49130263
23 LAMB2 NM_002292.3(LAMB2): c.306C> T (p.Asn102=) single nucleotide variant Benign/Likely benign rs79448908 GRCh37 Chromosome 3, 49169782: 49169782
24 LAMB2 NM_002292.3(LAMB2): c.306C> T (p.Asn102=) single nucleotide variant Benign/Likely benign rs79448908 GRCh38 Chromosome 3, 49132349: 49132349
25 PLCE1 NM_016341.3(PLCE1): c.513G> A (p.Val171=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749239 GRCh38 Chromosome 10, 94031559: 94031559
26 PLCE1 NM_016341.3(PLCE1): c.513G> A (p.Val171=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749239 GRCh37 Chromosome 10, 95791316: 95791316
27 PLCE1 NM_016341.3(PLCE1): c.810T> C (p.Cys270=) single nucleotide variant Benign rs17109671 GRCh38 Chromosome 10, 94031856: 94031856
28 PLCE1 NM_016341.3(PLCE1): c.810T> C (p.Cys270=) single nucleotide variant Benign rs17109671 GRCh37 Chromosome 10, 95791613: 95791613
29 PLCE1 NM_016341.3(PLCE1): c.960G> A (p.Glu320=) single nucleotide variant Benign rs17109674 GRCh37 Chromosome 10, 95791763: 95791763
30 PLCE1 NM_016341.3(PLCE1): c.960G> A (p.Glu320=) single nucleotide variant Benign rs17109674 GRCh38 Chromosome 10, 94032006: 94032006
31 PLCE1 NM_016341.3(PLCE1): c.1405T> A (p.Ser469Thr) single nucleotide variant Benign/Likely benign rs17508082 GRCh37 Chromosome 10, 95892129: 95892129
32 PLCE1 NM_016341.3(PLCE1): c.1405T> A (p.Ser469Thr) single nucleotide variant Benign/Likely benign rs17508082 GRCh38 Chromosome 10, 94132372: 94132372
33 PLCE1 NM_016341.3(PLCE1): c.1643G> T (p.Arg548Leu) single nucleotide variant Benign rs17417407 GRCh38 Chromosome 10, 94171330: 94171330
34 PLCE1 NM_016341.3(PLCE1): c.1643G> T (p.Arg548Leu) single nucleotide variant Benign rs17417407 GRCh37 Chromosome 10, 95931087: 95931087
35 PLCE1 NM_016341.3(PLCE1): c.1729G> A (p.Ala577Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141639885 GRCh37 Chromosome 10, 95931173: 95931173
36 PLCE1 NM_016341.3(PLCE1): c.1729G> A (p.Ala577Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141639885 GRCh38 Chromosome 10, 94171416: 94171416
37 PLCE1 NM_016341.3(PLCE1): c.2124G> A (p.Val708=) single nucleotide variant Benign/Likely benign rs61751496 GRCh38 Chromosome 10, 94234222: 94234222
38 PLCE1 NM_016341.3(PLCE1): c.2124G> A (p.Val708=) single nucleotide variant Benign/Likely benign rs61751496 GRCh37 Chromosome 10, 95993979: 95993979
39 PLCE1 NM_016341.3(PLCE1): c.3132C> T (p.His1044=) single nucleotide variant Benign/Likely benign rs61732522 GRCh37 Chromosome 10, 96012108: 96012108
40 PLCE1 NM_016341.3(PLCE1): c.3132C> T (p.His1044=) single nucleotide variant Benign/Likely benign rs61732522 GRCh38 Chromosome 10, 94252351: 94252351
41 PLCE1 NM_016341.3(PLCE1): c.4059C> T (p.Phe1353=) single nucleotide variant Benign/Likely benign rs61751499 GRCh37 Chromosome 10, 96025409: 96025409
42 PLCE1 NM_016341.3(PLCE1): c.4059C> T (p.Phe1353=) single nucleotide variant Benign/Likely benign rs61751499 GRCh38 Chromosome 10, 94265652: 94265652
43 PLCE1 NM_016341.3(PLCE1): c.4263G> A (p.Ser1421=) single nucleotide variant Benign/Likely benign rs41291134 GRCh38 Chromosome 10, 94265940: 94265940
44 PLCE1 NM_016341.3(PLCE1): c.4263G> A (p.Ser1421=) single nucleotide variant Benign/Likely benign rs41291134 GRCh37 Chromosome 10, 96025697: 96025697
45 PLCE1 NM_016341.3(PLCE1): c.4724G> C (p.Arg1575Pro) single nucleotide variant Benign rs2274224 GRCh38 Chromosome 10, 94279840: 94279840
46 PLCE1 NM_016341.3(PLCE1): c.4724G> C (p.Arg1575Pro) single nucleotide variant Benign rs2274224 GRCh37 Chromosome 10, 96039597: 96039597
47 PLCE1 NM_016341.3(PLCE1): c.5035+12C> A single nucleotide variant Benign rs3736901 GRCh38 Chromosome 10, 94284977: 94284977
48 PLCE1 NM_016341.3(PLCE1): c.5035+12C> A single nucleotide variant Benign rs3736901 GRCh37 Chromosome 10, 96044734: 96044734
49 PLCE1 NM_016341.3(PLCE1): c.5330C> T (p.Thr1777Ile) single nucleotide variant Benign rs3765524 GRCh38 Chromosome 10, 94298541: 94298541
50 PLCE1 NM_016341.3(PLCE1): c.5330C> T (p.Thr1777Ile) single nucleotide variant Benign rs3765524 GRCh37 Chromosome 10, 96058298: 96058298
Sources

Expression for Nephrotic Syndrome

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Search GEO for disease gene expression data for Nephrotic Syndrome.
Sources

Pathways for Nephrotic Syndrome

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Transport of the SLBP independent Mature mRNA 67
Show member pathways
 13.03 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
2
mRNA Splicing - Major Pathway 67
Show member pathways
 12.96 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
3
Cellular Senescence (REACTOME) 67
Show member pathways
 12.94 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
4
Signaling by Rho GTPases 67
Show member pathways
 12.82 ARHGDIA NUP107 NUP133 NUP160 NUP85
5
Glycosaminoglycan metabolism 67
Show member pathways
 12.72 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
6
Influenza Viral RNA Transcription and Replication 67
Show member pathways
 12.6 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
7
Mitotic Prophase 67
Show member pathways
 12.56 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
8
SUMOylation 67
Show member pathways
 12.44 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
9
Mitotic Prometaphase 67
Show member pathways
 12.38 NUP107 NUP133 NUP160 NUP85
10
Interferon gamma signaling 67
Show member pathways
 12.37 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
11
tRNA processing 67
Show member pathways
 12.22 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
12
Cellular response to heat stress 67
Show member pathways
 12.03 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
13
RNA transport 38
11.95 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
14
Transport of Mature Transcript to Cytoplasm 67
Show member pathways
 11.85 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
15
Hexose transport 67
Show member pathways
 11.43 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
16
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.04 ITGA3 LAMB2 NPHS1 NPHS2 PLCE1 SMARCAL1
17
Nephrin/Neph1 signaling in the kidney podocyte 1
10.99 NPHS1 NPHS2
18
Nephrin interactions 67
10.9 MAGI2 NPHS1
Sources

GO Terms for Nephrotic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.77 NUP107 NUP133 NUP205 NUP85 NUP93
2 kinetochore GO:0000776 9.71 NUP107 NUP133 NUP160 NUP85
3 condensed chromosome kinetochore GO:0000777 9.63 NUP107 NUP133 NUP85
4 nuclear envelope GO:0005635 9.63 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
5 nuclear periphery GO:0034399 9.5 NUP107 NUP205 NUP93
6 extrinsic component of mitochondrial inner membrane GO:0031314 9.43 COQ6 COQ8B
7 slit diaphragm GO:0036057 9.43 MAGI2 NPHS1 NPHS2
8 nuclear pore outer ring GO:0031080 9.26 NUP107 NUP133 NUP160 NUP85
9 nuclear pore GO:0005643 9.1 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
10 membrane GO:0016020 10.35 ARHGDIA COQ6 COQ8B EMP2 ITGA3 MAGI2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.93 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
2 viral process GO:0016032 9.85 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
3 protein import into nucleus GO:0006606 9.62 NUP107 NUP133 NUP85 NUP93
4 nucleocytoplasmic transport GO:0006913 9.61 NUP107 NUP205 NUP93
5 female gonad development GO:0008585 9.55 NUP107 SGPL1
6 ubiquinone biosynthetic process GO:0006744 9.54 COQ6 COQ8B
7 glomerular basement membrane development GO:0032836 9.52 NPHS1 WT1
8 glomerulus development GO:0032835 9.51 PLCE1 WT1
9 nuclear pore organization GO:0006999 9.49 NUP133 NUP205
10 nuclear pore complex assembly GO:0051292 9.43 NUP107 NUP205 NUP93
11 mRNA transport GO:0051028 9.43 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
12 metanephric glomerular visceral epithelial cell development GO:0072249 9.4 LAMB2 NPHS2
13 glomerular visceral epithelial cell migration GO:0090521 9.18 KANK2
14 glomerular visceral epithelial cell development GO:0072015 9.16 MAGI2 NPHS1
15 mRNA export from nucleus GO:0006406 9.1 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93

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 ARHGDIA COQ6 EMP2 ITGA3 KANK2 MAGI2
2 integrin binding GO:0005178 9.33 EMP2 ITGA3 LAMB2
3 structural constituent of nuclear pore GO:0017056 9.1 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93
Sources

Sources for Nephrotic Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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