LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Disease: Osteopoikilosis, Isolated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833699
Disease: Osteopoikilosis, Isolated
Osteopoikilosis, Isolated 		0.300 GermlineCausalMutation disease ORPHANET Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. 26694706 2016