ACTN4, actinin alpha 4, 81

N. diseases: 18; N. variants: 9
Disease: Focal segmental glomerulosclerosis 1 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 Biomarker disease GENOMICS_ENGLAND Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation. 29043128 2015
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation disease UNIPROT Mutational analysis of ACTN4, encoding α-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method. 23890478 2013
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation disease UNIPROT Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. 23014460 2013
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation disease UNIPROT Familial focal segmental glomerulosclerosis (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors. 22351778 2012
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation disease UNIPROT Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 22732337 2012
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation disease UNIPROT Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 18164029 2008
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation disease UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095 2008
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 Biomarker disease GENOMICS_ENGLAND Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis. 16251236 2005
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation disease UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000