MCID: GLM029
MIFTS: 48

Glomerulosclerosis, Focal Segmental, 1

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Glomerulosclerosis, Focal Segmental, 1

MalaCards integrated aliases for Glomerulosclerosis, Focal Segmental, 1:

Name: Glomerulosclerosis, Focal Segmental, 1 54 13
Focal Segmental Glomerulosclerosis 1 12 24 71 29
Fsgs1 12 24 71
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Glomerulosclerosis 56
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 56
Segmental Glomerulosclerosis 69

Characteristics:

Orphanet epidemiological data:

56

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade
slowly progressive
variable severity
incomplete penetrance


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

OMIM 54 603278
Disease Ontology 12 DOID:0111128
ICD10 33 N04.1
Orphanet 56 ORPHA93213
ICD10 via Orphanet 34 N04.1
MedGen 40 C0017668
MeSH 42 D005923

Summaries for Glomerulosclerosis, Focal Segmental, 1

OMIM : 54
Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998). D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte. Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. (603278)

MalaCards based summary : Glomerulosclerosis, Focal Segmental, 1, also known as focal segmental glomerulosclerosis 1, is related to glomerulosclerosis, focal segmental, 6 and coenzyme q10 deficiency, primary, 6, and has symptoms including proteinuria, hyperlipidemia and focal segmental glomerulosclerosis. An important gene associated with Glomerulosclerosis, Focal Segmental, 1 is ACTN4 (Actinin Alpha 4), and among its related pathways/superpathways are Hexose transport and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Valsartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and monocytes, and related phenotypes are Increased gamma-H2AX phosphorylation and cardiovascular system

UniProtKB/Swiss-Prot : 71 Focal segmental glomerulosclerosis 1: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.

Disease Ontology : 12 A focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2.

Related Diseases for Glomerulosclerosis, Focal Segmental, 1

Diseases in the Focal Segmental Glomerulosclerosis family:

Focal Segmental Glomerulosclerosis 8 Focal Segmental Glomerulosclerosis 9
Glomerulosclerosis, Focal Segmental, 4 Glomerulosclerosis, Focal Segmental, 3
Glomerulosclerosis, Focal Segmental, 7 Glomerulosclerosis, Focal Segmental, 2
Glomerulosclerosis, Focal Segmental, 5 Glomerulosclerosis, Focal Segmental, 6
Glomerulosclerosis, Focal Segmental, 1

Diseases related to Glomerulosclerosis, Focal Segmental, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
id Related Disease Score Top Affiliating Genes
1 glomerulosclerosis, focal segmental, 6 10.7
2 coenzyme q10 deficiency, primary, 6 10.7
3 glomerulosclerosis, focal segmental, 4 10.7
4 glomerulosclerosis, focal segmental, 3 10.7
5 glomerulosclerosis, focal segmental, 7 10.7
6 glomerulosclerosis, focal segmental, 2 10.7
7 glomerulosclerosis, focal segmental, 5 10.7
8 pfeiffer syndrome type 2 10.6 PLCE1 WT1
9 monostotic fibrous dysplasia 10.5 CD2AP NPHS2
10 congenital megacalycosis 10.4 NPHS1 PTPRO
11 mucinous adenofibroma 10.4 PAX2 WT1
12 corneal dystrophy, fuchs endothelial, 8 10.4 ACTN4 NPHS2
13 46xy sex reversal 8 10.2 ACTN4 NPHS1 NPHS2
14 muscular dystrophy-dystroglycanopathy , type a, 1 10.2 CD2AP NPHS2 PAX2
15 benign secondary hypertension 10.2 NPHS2 PTPRO WT1
16 renal hypoplasia 10.2 NPHS1 NPHS2 PTPRO
17 cardiomyopathy, dilated, 1ee 10.1 CD2AP NPHS1 NPHS2
18 sarcocystosis 10.0 NPHS1 NPHS2
19 spastic monoplegia 10.0 CD2AP NPHS1 NPHS2
20 exocrine pancreatic insufficiency 10.0 NPHS1 NPHS2 WT1
21 nasopharyngeal carcinoma 2 9.9 CD2AP NPHS1 NPHS2
22 renal dysplasia 9.8 NPHS1 NUP93 PLCE1 PTPRO WT1
23 digestive system melanoma 9.7 NPHS1 NPHS2 PAX2 PLCE1 WT1
24 congenital pulmonary alveolar proteinosis 9.7 ACTN4 CD2AP NPHS1 NPHS2 WT1
25 nephrotic syndrome, type 4 9.6 CD2AP NPHS1 NPHS2 PAX2 WT1
26 meacham syndrome 9.5 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
27 granuloma annulare 9.3 COL4A3 NPHS1 NPHS2
28 female stress incontinence 9.2 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 TRPC6
29 hyperbiliverdinemia 9.2 ACTN4 CD2AP NPHS1 NPHS2 PAX2 PTPRO
30 inhibited male orgasm 8.1 ACTN4 CD2AP COL4A3 CRB2 NPHS1 NPHS2
31 transient refractive change 8.1 ACTN4 CD2AP COQ8B NPHS1 NPHS2 NUP107
32 gas gangrene 5.8 ACTN4 ANLN CD2AP COL4A3 CRB2 INF2
33 hyperferritinemia-cataract syndrome 4.4 ACTN4 ANLN ARHGAP24 CD2AP COL4A3 COQ8B

Graphical network of the top 20 diseases related to Glomerulosclerosis, Focal Segmental, 1:



Diseases related to Glomerulosclerosis, Focal Segmental, 1

Symptoms & Phenotypes for Glomerulosclerosis, Focal Segmental, 1

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Vascular:
hypertension

Hematology:
anemia

Genitourinary- Kidneys:
end-stage renal disease (in some patients)
focal segmental glomerulosclerosis
small hyperechoic kidneys

Laboratory- Abnormalities:
proteinuria


Clinical features from OMIM:

603278

Human phenotypes related to Glomerulosclerosis, Focal Segmental, 1:

32
id Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 hyperlipidemia 32 HP:0003077
3 focal segmental glomerulosclerosis 32 obligate (100%) HP:0000097
4 edema 32 HP:0000969
5 hypoalbuminemia 32 HP:0003073

GenomeRNAi Phenotypes related to Glomerulosclerosis, Focal Segmental, 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.23 ANLN COL4A3 MYO1E NPHS1 NUP107 NUP205

MGI Mouse Phenotypes related to Glomerulosclerosis, Focal Segmental, 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 PAX2 PLCE1 PTPRO TRPC6 WT1 ACTN4
2 renal/urinary system MP:0005367 9.28 ACTN4 CD2AP COL4A3 MYO1E NPHS1 NPHS2

Drugs & Therapeutics for Glomerulosclerosis, Focal Segmental, 1

Drugs for Glomerulosclerosis, Focal Segmental, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 124)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
2
Angiotensin II Investigational Phase 4,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
3 Hormone Antagonists Phase 4,Phase 3,Phase 2
4 Hormones Phase 4,Phase 3,Phase 2
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
6 Adrenocorticotropic Hormone Phase 4,Phase 3
7 beta-endorphin Phase 4,Phase 3
8 Melanocyte-Stimulating Hormones Phase 4,Phase 3
9 Immunoglobulin A Phase 4
10 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 2
11 Angiotensin Receptor Antagonists Phase 4,Phase 2
12 Angiotensinogen Phase 4,Phase 2
13 Antihypertensive Agents Phase 4,Phase 2
14
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 3,Phase 2 24280-93-1 446541
16
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2 50-02-2 5743
17
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
18
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
19
Chlorambucil Approved Phase 3 305-03-3 2708
20
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
21
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
22
Valproic Acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
23 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
24 Antineoplastic Agents, Hormonal Phase 3,Phase 2
25 Calcineurin Inhibitors Phase 3,Phase 2
26 glucocorticoids Phase 3,Phase 2
27 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
28 Antiemetics Phase 3,Phase 2
29 Antifungal Agents Phase 3,Phase 2
30 Anti-Infective Agents Phase 3,Phase 2
31 Antirheumatic Agents Phase 3,Phase 2,Phase 1
32 Autonomic Agents Phase 3,Phase 2
33 BB 1101 Phase 3,Phase 2
34 Cyclosporins Phase 3
35 Dermatologic Agents Phase 3
36 Dexamethasone acetate Phase 3,Phase 2 1177-87-3
37 Gastrointestinal Agents Phase 3,Phase 2
38 HIV Protease Inhibitors Phase 3,Phase 2
39 Peripheral Nervous System Agents Phase 3,Phase 2
40
protease inhibitors Phase 3,Phase 2
41 Alkylating Agents Phase 3,Phase 1,Phase 2
42 Anti-Bacterial Agents Phase 3,Phase 2
43 Antibiotics, Antitubercular Phase 3,Phase 2
44 Methylprednisolone acetate Phase 3,Phase 2
45 Methylprednisolone Hemisuccinate Phase 3,Phase 2
46 Neuroprotective Agents Phase 3
47 Prednisolone acetate Phase 3,Phase 2
48 Prednisolone hemisuccinate Phase 3,Phase 2
49 Prednisolone phosphate Phase 3,Phase 2
50 Protective Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 61)

id Name Status NCT ID Phase Drugs
1 Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH Completed NCT01155141 Phase 4 H.P. Acthar Gel
2 Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
3 Treatment of Proteinuria Due to Treatment Resistant or Treatment Intolerant Idiopathic FSGS Recruiting NCT02633046 Phase 4 Acthar 80 U 2x/week;Acthar 80 U 3x/week
4 Treating to Reduce Albuminuria and Normalize Hemodynamic Function in Focal ScLerosis With dApagliflozin Trial Effects Recruiting NCT02585804 Phase 4 Dapagliflozin
5 Aldosterone Breakthrough During Diovan, Tekturna, and Combination Therapy in Patients With Proteinuric Kidney Disease Terminated NCT01129557 Phase 4 Aliskiren;Valsartan
6 Focal Segmental Glomerulosclerosis Clinical Trial (FSGS-CT) Completed NCT00135811 Phase 3 Cyclosporin;MMF and Dexamethasone
7 Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00981838 Phase 3 Rituximab
8 Mycophenolate Mofetil in Membranous Nephropathy and Focal Segmental Completed NCT00404833 Phase 3 prednisolone and mycophenolate mofetil;prednisolone and chlorambucil
9 Efficacy of Rituximab For the Treatment of Calcineurin Inhibitors Dependent Nephrotic Syndrome During Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
10 Steroid Treatment for Kidney Disease Completed NCT00065611 Phase 3 Oral dexamethasone
11 Use of Acthar in Patients With FSGS That Will be Undergoing Renal Transplantation Recruiting NCT02683889 Phase 3 Acthar
12 Valproic Acid for Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
13 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Not yet recruiting NCT03298698 Phase 3 Rituximab;Prednisone
14 Rituximab to Prevent Recurrence of Proteinuria Terminated NCT01164098 Phase 3 Rituximab
15 Rituximab Treatment of Focal Segmental Glomerulosclerosis Completed NCT00550342 Phase 2 rituximab
16 Permeability Factor in Focal Segmental Glomerulosclerosis Completed NCT00007475 Phase 1, Phase 2 Cyclophosphamide
17 A Study of Fresolimumab in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis (FSGS) Completed NCT01665391 Phase 2 fresolimumab;fresolimumab;Placebo
18 Sirolimus for Focal Segmental Glomerulosclerosis Completed NCT00040508 Phase 2 Sirolimus
19 A Phase II, Repeat Dose, Proof of Mechanism Study of Losmapimod to Reduce Proteinuria in Patients With Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2 Losmapimod
20 Novel Therapies for Resistant FSGS (FONTII): Phase II Clinical Trial Completed NCT00814255 Phase 2 Adalimumab;Lisinopril, losartan, and atorvastatin;galactose
21 Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2 Dexamethasone
22 Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis) Completed NCT00001959 Phase 2 Pirfenidone
23 Retinoids for Minimal Change Disease and Focal Segmental Glomerulosclerosis Completed NCT00098020 Phase 1, Phase 2 Retinoids for Podocyte Disease
24 Study to Assess the Efficacy and Safety of Bleselumab in Preventing the Recurrence of Focal Segmental Glomerulosclerosis in de Novo Kidney Transplant Recipients Recruiting NCT02921789 Phase 2 Bleselumab;Basiliximab;Mycophenolate Mofetil (MMF);Tacrolimus Capsules;Methylprednisone;Prednisone
25 Pilot Study to Evaluate the Safety and Efficacy of Abatacept in Adults and Children 6 Years and Older With Excessive Loss of Protein in the Urine Due to Either Focal Segmental Glomerulosclerosis (FSGS) or Minimal Change Disease (MCD) Recruiting NCT02592798 Phase 2 Abatacept
26 Randomized, Double-Blind, Safety and Efficacy Study of RE-021 (Sparsentan) in Focal Segmental Glomerulosclerosis Active, not recruiting NCT01613118 Phase 2 RE-021 (Sparsentan);Irbesartan
27 A Pilot Study to Assess the Efficacy of Rituximab Therapy in Treatment Resistant FSGS Active, not recruiting NCT01573533 Phase 2
28 Safety Study of GC1008 in Patients With Focal Segmental Glomerulosclerosis (FSGS) of Single Doses of GC1008 in Patients With Treatment Resistant Idiopathic FSGS Completed NCT00464321 Phase 1
29 Total Lymphoid Irradiation (TLI) to Prevent Focal Segmental Glomerulosclerosis (FSGS)Recurrence in the Renal Graft Completed NCT00353535 Phase 1
30 Pilot Studies of Novel Therapies to Treat Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00193648 Phase 1 Rosiglitazone (Avandia);Adalimumab (Humira)
31 Allogenic AD-MSC Transplantation in Idiopathic Nephrotic Syndrome (Focal Segmental Glomerulosclerosis) Recruiting NCT02382874 Phase 1
32 A Phase 1 Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With Primary Podocyte Diseases Recruiting NCT02639260 Phase 1 N-acetyl-mannosamine (ManNAc)
33 Stem Cell Therapy for Patients With Focal Segmental Glomerulosclerosis Active, not recruiting NCT02693366 Phase 1
34 Safety and Pharmacokinetics of FG-3019 in Adolescents and Adults With Focal Segmental Glomerulosclerosis (FSGS) Terminated NCT00782561 Phase 1 FG-3019
35 Effect of Oral Galactose on Focal Segmental Glomerulosclerosis (FSGS) Permeability Factor Terminated NCT00816478 Phase 1 Galactose
36 Effect of Galactose on Permeblity Factor in Patients With FSGS and CKD Stage 5 Withdrawn NCT00816504 Phase 1 Galactose
37 Therapeutic Effect of Low-dose Prednisone Combined With MMF and FK506 in Focal Segmental Glomerulosclerosis Unknown status NCT00956059 prednisone, FK506, MMF;prednisone
38 Prednisone Plus Tripterygium Wilfordii Treatment of Adult Patients With Idiopathic Focal Segmental Glomerulosclerosis Completed NCT00801463 tripterygium wilfordii (TW)
39 Oral Galactose in Children With Steroid Resistant Nephrotic Syndrome Completed NCT01113385 D-Galactose
40 Kidney Disease Biomarkers Completed NCT00255398
41 Regional Citrate Anticoagulation in Plasma Exchange Treatment Completed NCT01370200
42 The Effects of Helicobacter Pylori Eradication on Proteinuria in Patients With Membranous Nephropathy Completed NCT00983034 lansoprazole, amoxicillin, clarithromycin
43 Evaluation of Albuminuria HIV-Infected Patients Completed NCT00524992
44 Lupus Nephritis Biomarker Study: Baseline Characteristics of Patients Completed NCT01470183
45 Steroid-Induced Osteoporosis in the Pediatric Population - Canadian Incidence Study Completed NCT01663129
46 Role of Donor Genetics and Recipient Genetics in Kidney Transplant Outcomes Completed NCT01143532
47 Post Approval Study of Liposorber LA-15 System for the Treatment of Focal Segmental Glomerulosclerosis in Children Recruiting NCT02235857
48 Genetic Markers for Focal Segmental Glomerulosclerosis Recruiting NCT00001393
49 Proteinuria in Pre and Post Transplant Recruiting NCT01094327
50 A Prospective Controlled Study of Serum suPAR in the CsA-treated FSGS Patients Recruiting NCT01468493

Search NIH Clinical Center for Glomerulosclerosis, Focal Segmental, 1

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Glomerulosclerosis, Focal Segmental, 1

Genetic tests related to Glomerulosclerosis, Focal Segmental, 1:

id Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 1 29 24 ACTN4

Anatomical Context for Glomerulosclerosis, Focal Segmental, 1

MalaCards organs/tissues related to Glomerulosclerosis, Focal Segmental, 1:

39
Kidney, Bone, Monocytes

Publications for Glomerulosclerosis, Focal Segmental, 1

Variations for Glomerulosclerosis, Focal Segmental, 1

UniProtKB/Swiss-Prot genetic disease variations for Glomerulosclerosis, Focal Segmental, 1:

71
id Symbol AA change Variation ID SNP ID
1 ACTN4 p.Lys255Glu VAR_010378 rs121908415
2 ACTN4 p.Thr259Ile VAR_010379 rs121908416
3 ACTN4 p.Ser262Pro VAR_010380 rs121908417
4 ACTN4 p.Ser262Phe VAR_072115
5 ACTN4 p.Ala427Thr VAR_072116 rs201128110
6 ACTN4 p.Asn748Asp VAR_072117

ClinVar genetic disease variations for Glomerulosclerosis, Focal Segmental, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACTN4 NM_004924.5(ACTN4): c.763A> G (p.Lys255Glu) single nucleotide variant Pathogenic rs121908415 GRCh37 Chromosome 19, 39200926: 39200926
2 ACTN4 NM_004924.5(ACTN4): c.776C> T (p.Thr259Ile) single nucleotide variant Pathogenic rs121908416 GRCh37 Chromosome 19, 39200939: 39200939
3 ACTN4 NM_004924.5(ACTN4): c.784T> C (p.Ser262Pro) single nucleotide variant Pathogenic rs121908417 GRCh37 Chromosome 19, 39200947: 39200947
4 ACTN4 NM_004924.5(ACTN4): c.584G> A (p.Gly195Asp) single nucleotide variant Pathogenic rs878853159 GRCh37 Chromosome 19, 39198768: 39198768

Expression for Glomerulosclerosis, Focal Segmental, 1

Search GEO for disease gene expression data for Glomerulosclerosis, Focal Segmental, 1.

Pathways for Glomerulosclerosis, Focal Segmental, 1

Pathways related to Glomerulosclerosis, Focal Segmental, 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.43 NUP107 NUP205 NUP93
2 11.27 ACTN4 CD2AP COL4A3 INF2 MYO1E NPHS1
3 10.67 ACTN4 CD2AP NPHS1
4 10.67 CD2AP NPHS1 NPHS2 TRPC6

GO Terms for Glomerulosclerosis, Focal Segmental, 1

Cellular components related to Glomerulosclerosis, Focal Segmental, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.77 ACTN4 CD2AP CRB2 NPHS2 PAX2
2 actin cytoskeleton GO:0015629 9.56 ACTN4 ANLN CD2AP MYO1E
3 nuclear pore GO:0005643 9.5 NUP107 NUP205 NUP93
4 cell-cell junction GO:0005911 9.46 ACTN4 CD2AP MYO1E NPHS2
5 nuclear periphery GO:0034399 9.13 NUP107 NUP205 NUP93
6 slit diaphragm GO:0036057 8.8 NPHS1 NPHS2 TRPC6

Biological processes related to Glomerulosclerosis, Focal Segmental, 1 according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 viral transcription GO:0019083 9.75 NUP107 NUP205 NUP93
2 mRNA transport GO:0051028 9.74 NUP107 NUP205 NUP93
3 mRNA export from nucleus GO:0006406 9.73 NUP107 NUP205 NUP93
4 regulation of gene silencing by miRNA GO:0060964 9.72 NUP107 NUP205 NUP93
5 protein sumoylation GO:0016925 9.71 NUP107 NUP205 NUP93
6 regulation of cellular response to heat GO:1900034 9.7 NUP107 NUP205 NUP93
7 intracellular transport of virus GO:0075733 9.63 NUP107 NUP205 NUP93
8 mitotic nuclear envelope disassembly GO:0007077 9.58 NUP107 NUP205 NUP93
9 mesenchymal to epithelial transition GO:0060231 9.51 PAX2 WT1
10 tRNA export from nucleus GO:0006409 9.5 NUP107 NUP205 NUP93
11 metanephric mesenchyme development GO:0072075 9.49 PAX2 WT1
12 glomerular visceral epithelial cell differentiation GO:0072112 9.48 PTPRO WT1
13 metanephric epithelium development GO:0072207 9.43 PAX2 WT1
14 nuclear pore complex assembly GO:0051292 9.43 NUP107 NUP205 NUP93
15 glomerular visceral epithelial cell migration GO:0090521 9.37 ANLN NUP93
16 glomerulus development GO:0032835 9.33 PLCE1 PTPRO WT1
17 glomerular visceral epithelial cell development GO:0072015 9.13 MYO1E NPHS1 NUP93
18 glomerular basement membrane development GO:0032836 8.92 COL4A3 MYO1E NPHS1 WT1

Molecular functions related to Glomerulosclerosis, Focal Segmental, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.35 ACTN4 ANLN INF2 MYO1E TRPC6
2 structural constituent of nuclear pore GO:0017056 8.8 NUP107 NUP205 NUP93

Sources for Glomerulosclerosis, Focal Segmental, 1

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