BGLAP, bone gamma-carboxyglutamate protein, 632

N. diseases: 274; N. variants: 2
Disease: Deformity of bone ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410719
Disease: Deformity of bone
Deformity of bone 		0.010 GeneticVariation group BEFREE OCN is a major component of bone extracellular matrix and a marker of osteogenesis, whereas mutations in LMNA cause several genetic disorders called laminopathies, including mandibuloacral dysostosis (MAD) that manifests with low bone mass, severe bone deformities, and delayed closure of the cranial sutures. 29845577 2018