Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly
0.300 Biomarker disease CTD_human Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. 15475955 2004