Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0302142
Disease: Deformity
Deformity 		0.040 Biomarker BEFREE Eucalyptol may be a potent agent antagonizing diabetes-associated malformation of interpodocyte slit junction and podocyte actin cytoskeleton. 29987888

2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0302142
Disease: Deformity
Deformity 		0.040 Biomarker BEFREE Injection of the WHD2-deleted mutant into oocytes caused a drastic accumulation of actin filaments in the cytoplasm and malformation of MTOC-TMA, suggesting that the WHD2 domain negatively regulates the VCA domain activity during oocyte maturation. 29266787

2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0302142
Disease: Deformity
Deformity 		0.040 GeneticVariation BEFREE In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability. 29220674

2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0302142
Disease: Deformity
Deformity 		0.040 Biomarker BEFREE We show that these defects are a result of an underlying malformation in the formation and polarity of cardiac actin fibers and F-actin deposition. 22278918

2012