Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. | 26740551 | 2016 | ||||
|
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 | ||||
|
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 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | Both patients had non-nephrotic syndrome FSGS with reduced kidney alpha-actinin-4 expression. | 19142020 | 2009 | ||||
|
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 | ||||
|
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 | ||||
|
0.080 | Biomarker | disease | BEFREE | This newly developed mouse model of human ACTN4-associated FSGS suggests a cause-and-effect relationship between actin cytoskeleton dysregulation by mutant alpha-actinin-4 and the deterioration of the nephrin-supported slit diaphragm complex. | 12707390 | 2003 |