Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.110 GeneticVariation disease BEFREE Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 20159109 2010
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.110 Biomarker disease HPO