ACTN4, actinin alpha 4, 81

N. diseases: 166; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095 2008
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095 2008
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095 2008
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
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
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs34105297
rs34105297
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019