Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.060 AlteredExpression disease BEFREE FSGS cases expressed more uPAR than each of control and MCD (p = 0.0019; H = 12.57) and there was a positive and significant correlation between nephrin and podocin (p = 0.0026, rS = 0.6502) in these cases. 31188898 2019
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
0.010 GeneticVariation disease BEFREE Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. 31001663 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 Biomarker disease BEFREE Renal impairment treated with TKIs is commonly associated with minimal change nephrotic syndrome/FSGS findings, and it is suggested that renal involvement with TKI is different from that with the vascular endothelial growth factor ligand. 30340546 2018
Entrez Id: 286204
Gene Symbol: CRB2
CRB2
0.010 GeneticVariation disease BEFREE FSGS was identified by renal biopsy.Whole exome sequencing (WES) showed that a novel mutation of crumbs homolog 2 (CRB2) was identified in a Chinese boy with FSGS. 30212996 2018
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
0.300 Biomarker disease GENOMICS_ENGLAND Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome. 29270492 2017
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
0.010 Biomarker disease BEFREE Soluble CD40 ligand directly alters glomerular permeability and may act as a circulating permeability factor in FSGS. 29155846 2017
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.320 GeneticVariation disease BEFREE INF2 mutations in patients with isolated FSGS are clustered in exons 2 to 4, encoding the diaphanous inhibitory domain, involved in the regulation of the podocyte actin cytoskeleton. 29038887 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.020 GeneticVariation disease BEFREE INF2 mutations in patients with isolated FSGS are clustered in exons 2 to 4, encoding the diaphanous inhibitory domain, involved in the regulation of the podocyte actin cytoskeleton. 29038887 2018
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.080 Biomarker disease BEFREE FSGS lesions resembling human FSGS developed spontaneously by 7 months of age, and could be induced earlier by accelerating kidney hypertrophy by nephrectomy. 28720684 2017
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.050 Biomarker disease BEFREE Three different interventions that prevented kidney growth and glomerular enlargement (calorie intake reduction, inhibition of mammalian target of rapamycin complex, and inhibition of angiotensin-converting enzyme) protected against FSGS lesion development, even when initiated late in the process. 28720684 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.010 Biomarker disease BEFREE Three different interventions that prevented kidney growth and glomerular enlargement (calorie intake reduction, inhibition of mammalian target of rapamycin complex, and inhibition of angiotensin-converting enzyme) protected against FSGS lesion development, even when initiated late in the process. 28720684 2017
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
0.010 AlteredExpression disease BEFREE Fibrinogen links podocyte injury with Toll-like receptor 4 and is associated with disease activity in FSGS patients. 28407405 2018
Entrez Id: 406968
Gene Symbol: MIR193A
MIR193A
0.010 AlteredExpression disease BEFREE <i>Background</i>.Glomerular upregulation of miR-193a has been detected in primary focal segmental glomerulosclerosis (FSGS) but not in other glomerular diseases. 28246603 2017
Entrez Id: 794
Gene Symbol: CALB2
CALB2
0.010 AlteredExpression disease BEFREE Urinary concentration of alpha-1 antitrypsin, transferrin, histatin-3 and 39S ribosomal protein L17 was decreased and calretinin was increased in FSGS compared to MCD. 28158993 2017
Entrez Id: 9349
Gene Symbol: RPL23
RPL23
0.010 AlteredExpression disease BEFREE Urinary concentration of alpha-1 antitrypsin, transferrin, histatin-3 and 39S ribosomal protein L17 was decreased and calretinin was increased in FSGS compared to MCD. 28158993 2017
Entrez Id: 6139
Gene Symbol: RPL17
RPL17
0.010 AlteredExpression disease BEFREE Urinary concentration of alpha-1 antitrypsin, transferrin, histatin-3 and 39S ribosomal protein L17 was decreased and calretinin was increased in FSGS compared to MCD. 28158993 2017
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.320 GeneticVariation disease BEFREE FSGS-causing INF2 mutations impair these interactions and disrupt the ability of INF2 to regulate Rho/Dia-mediated actin dynamics in vitro. 27350175 2016
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.060 GeneticVariation disease BEFREE We present a 12-year-old girl with rapidly progressive FSGS and end-stage renal disease in her native kidneys associated with heterozygous mutations in NPHS1 and in NPHS2, suffering from early post-transplant recurrence. 27312921 2016
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.020 GeneticVariation disease BEFREE We present a 12-year-old girl with rapidly progressive FSGS and end-stage renal disease in her native kidneys associated with heterozygous mutations in NPHS1 and in NPHS2, suffering from early post-transplant recurrence. 27312921 2016
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.080 GeneticVariation disease BEFREE Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. 26740551 2016
Entrez Id: 4619
Gene Symbol: MYH1
MYH1
0.010 GeneticVariation disease BEFREE Effects of FSGS-associated mutations on the stability and function of myosin-1 in fission yeast. 26092123 2015
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.320 Biomarker disease GENOMICS_ENGLAND Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. 25165188 2014
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.080 Biomarker disease BEFREE Urinary miR-196a, miR-30a-5p, and miR-490 discriminated FSGS-A from FSGS-CR, with an area under the curve of ≥ 0.80. 25107948 2014
Entrez Id: 574443
Gene Symbol: MIR490
MIR490
0.010 Biomarker disease BEFREE Urinary miR-196a, miR-30a-5p, and miR-490 discriminated FSGS-A from FSGS-CR, with an area under the curve of ≥ 0.80. 25107948 2014
Entrez Id: 407029
Gene Symbol: MIR30A
MIR30A
0.010 AlteredExpression disease BEFREE The levels of urinary miR-196a, miR-30a-5p, and miR-490 are associated with FSGS disease activity. 25107948 2014