Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 GeneticVariation disease BEFREE Bone mineral density quantitative trait locus 18 (BMND18, OMIM #300910) is a type of early-onset osteogenesis imperfecta (OI) caused by loss-of-function mutations in the PLS3 gene, which encodes plastin-3, a key protein in the formation of actin bundles throughout the cytoskeleton. 30405713 2018