Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.060 GeneticVariation disease BEFREE We previously reported that mutations in the anillin (<i>ANLN</i>) gene cause familial forms of FSGS. 30002222 2018
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.060 Biomarker disease BEFREE A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.060 GeneticVariation disease BEFREE Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis. 23689571 2013
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.060 AlteredExpression disease BEFREE Rare mutations in ACTN4 (α-actinin-4), an actin-binding protein expressed in podocytes, cause familial focal segmental glomerulosclerosis. 22965004 2012
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.060 GeneticVariation disease BEFREE These data support a new gene locus for familial FSGS on chromosome 2p15. 20616172 2010
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
0.060 GeneticVariation disease BEFREE Mutations in ACTN4, encoding the actin-binding protein alpha-actinin-4, cause a form of familial focal segmental glomerulosclerosis. 18185509 2008