Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7225
Gene Symbol: TRPC6
TRPC6 		0.350 GeneticVariation disease BEFREE We therefore examined whether FSGS-associated mutations in TRPC6 result in activation of these kinases. 23645677 2013
Entrez Id: 7225
Gene Symbol: TRPC6
TRPC6 		0.350 GeneticVariation disease BEFREE To extend the screening, we analyzed TRPC6 in 33 Italian children with sporadic early-onset SRNS and three Italian families with adult-onset FSGS. 21734084 2011
Entrez Id: 7225
Gene Symbol: TRPC6
TRPC6 		0.350 GeneticVariation disease BEFREE Here we report a novel TRPC6 mutation that leads to early onset FSGS. 19936226 2009
Entrez Id: 7225
Gene Symbol: TRPC6
TRPC6 		0.350 GeneticVariation disease BEFREE TRPC6 mutation analysis was performed by direct sequencing in 130 Spanish patients from 115 unrelated families with FSGS. 19458060 2009
Entrez Id: 7225
Gene Symbol: TRPC6
TRPC6 		0.350 Biomarker disease BEFREE TRPC6 and FSGS: the latest TRP channelopathy. 17459670 2007
Entrez Id: 7225
Gene Symbol: TRPC6
TRPC6 		0.350 Biomarker disease GENOMICS_ENGLAND A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 15879175 2005
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: 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: 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: 55998
Gene Symbol: NXF5
NXF5 		0.310 Biomarker disease GENOMICS_ENGLAND Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 23686279 2013
Entrez Id: 55998
Gene Symbol: NXF5
NXF5 		0.310 GeneticVariation disease BEFREE Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 23686279 2013
Entrez Id: 11346
Gene Symbol: SYNPO
SYNPO 		0.310 Biomarker disease GENOMICS_ENGLAND Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis. 19666657 2010
Entrez Id: 11346
Gene Symbol: SYNPO
SYNPO 		0.310 GeneticVariation disease BEFREE So we presumed that the ACTN4 and SYNPO promoter mutations might also contribute to pathophysiology of idiopathic FSGS. 19666657 2010
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: 4010
Gene Symbol: LMX1B
LMX1B 		0.300 Biomarker disease GENOMICS_ENGLAND LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. 24042019 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.300 Biomarker disease GENOMICS_ENGLAND Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. 24080738 2013
Entrez Id: 83478
Gene Symbol: ARHGAP24
ARHGAP24 		0.300 Biomarker disease GENOMICS_ENGLAND Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. 21911940 2011
Entrez Id: 1871
Gene Symbol: E2F3
E2F3 		0.300 Biomarker disease GENOMICS_ENGLAND Pathogenesis of focal segmental glomerular sclerosis in a girl with the partial deletion of chromosome 6p. 21372519 2011
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: 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: 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: 81
Gene Symbol: ACTN4
ACTN4 		0.080 GeneticVariation disease BEFREE To investigate the promoter mutations of ACTN4 and SYNPO genes in patients with idiopathic focal segmental glomerulosclerosis (FSGS), and to provide functional analysis of these mutations in the role of FSGS occurrence. 19666657 2010
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4 		0.080 AlteredExpression disease BEFREE Both patients had non-nephrotic syndrome FSGS with reduced kidney alpha-actinin-4 expression. 19142020 2009
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4 		0.080 Biomarker disease BEFREE Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. 15208719 2004
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4 		0.080 GeneticVariation disease BEFREE We analyzed these reported mutations in ACTN4 and podocin in five patients with chronic renal failure due to therapy-resistant FSGS by direct sequencing of polymerase chain reaction products of ACTN4 and podocin. 12617336 2003