FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Van Buchem disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		0.300 Biomarker disease CTD_human Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003