LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Disease: Skeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.110 GeneticVariation disease BEFREE Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3. 28434888 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.110 Biomarker disease HPO