Disease Term Disease ID Gene Symbol Classification References Source
Osteopoikilosis (disorder) C0029455 LEMD3 Causal Pathogenic evidence from ClinVar 26694706 ClinVar
HMGA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Osteopoikilosis, Isolated C1833699 LEMD3 Causal Pathogenic evidence from ClinVar 26694706 ClinVar