LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia
0.020 GeneticVariation disease BEFREE Achondroplasia (ACH), the most common cause of chondrodysplasia in man (1 in 15,000 live births), is an autosomal dominant condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. 8742128 1996
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia
0.020 GeneticVariation disease BEFREE Achondroplasia, the most common cause of chondrodysplasia in man (1 in 15,000 live births), is a condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. 8078586 1994