LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Disease: Bone Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.010 GeneticVariation group BEFREE We studied 11 unrelated individuals with sclerosing bone disorders where LEMD3 mutation was a potential etiology: familial OPK (1), familial BOS (2), previously reported familial OPK with MEL (1), sporadic MEL (3), sporadic MEL with mixed-sclerosing-bone dystrophy (1), and patients with other unusual sclerosing bone disorders (3). 17087626 2007