| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Focal segmental glomerulosclerosis 1
|
0.800 | GeneticVariation | UNIPROT | Mutational analysis of ACTN4, encoding α-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method. | 23890478 | 2013 | |||||
Focal segmental glomerulosclerosis 1
|
0.800 | GeneticVariation | UNIPROT | Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. | 23014460 | 2013 | |||||
Focal segmental glomerulosclerosis 1
|
0.800 | GeneticVariation | UNIPROT | Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. | 22732337 | 2012 | |||||
Focal segmental glomerulosclerosis 1
|
0.800 | GeneticVariation | UNIPROT | Familial focal segmental glomerulosclerosis (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors. | 22351778 | 2012 | |||||
Focal segmental glomerulosclerosis 1
|
0.800 | GeneticVariation | UNIPROT | Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. | 18164029 | 2008 | |||||
Focal segmental glomerulosclerosis 1
|
0.800 | GeneticVariation | UNIPROT | Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. | 18436095 | 2008 | |||||
Focal segmental glomerulosclerosis 1
|
0.800 | GeneticVariation | UNIPROT | Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. | 10700177 | 2000 | |||||
Focal segmental glomerulosclerosis 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Focal glomerulosclerosis
|
0.050 | GeneticVariation | BEFREE | A putative kinase target site at Y265 in the actin binding domain was also generated as a phosphomimetic ACTN4 Y265E that demonstrated even greater binding to actin filaments than K255E and the other FSGS mutants. | 31664084 | 2019 | |||||
Focal glomerulosclerosis
|
0.050 | GeneticVariation | BEFREE | Transgenic mice that express actinin-4 K256E in podocytes develop podocyte injury, proteinuria, and FSGS in association with glomerular ER stress. | 29873512 | 2018 | |||||
Focal glomerulosclerosis
|
0.050 | GeneticVariation | BEFREE | Despite the absence of a familial pattern of inheritance, these similar biological changes caused by the Y265H and K255E amino acid substitutions suggest that this new variant is potentially the cause of FSGS in this patient. | 27977723 | 2016 | |||||
Focal glomerulosclerosis
|
0.050 | GeneticVariation | BEFREE | We crossed Col1α1-eGFP-L10a mice with the Actn4(-/-) and Actn4(+/K256E) models of FSGS and analyzed podocyte transcriptional profiles at 2, 6, and 44 weeks of age. | 24940801 | 2014 | |||||
Focal glomerulosclerosis
|
0.050 | GeneticVariation | BEFREE | Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution. | 18164029 | 2008 |