Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.050 GeneticVariation phenotype BEFREE The rod domain, like other ACTN1 functional domains, may be mutated resulting in actin disorganization in vitro and thrombocytopenia with normal platelet size in most cases. 31237726 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.050 GeneticVariation phenotype BEFREE Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. 30451859 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.050 GeneticVariation phenotype BEFREE Our results define an ACTB-associated clinical syndrome with a distinct genotype-phenotype correlation and delineate molecular mechanisms underlying thrombocytopenia in this patient cohort. 30315159 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.050 Biomarker phenotype BEFREE These data reveal an unexpected role of Mastl in actin cytoskeletal dynamics in postmitotic cells and suggest that the thrombocytopenia-associated mutation in MASTL is a pathogenic dominant mutation that mimics decreased PP2A activity resulting in altered phosphorylation of cytoskeletal regulatory pathways. 30252678 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.050 GeneticVariation phenotype BEFREE In this model, autoinflammation was caused by mutation in the actin regulatory gene WDR1 We report a homozygous missense mutation in WDR1 in two siblings causing periodic fevers with immunodeficiency and thrombocytopenia. 27994071 2017