Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220693
Disease: Microcephaly autosomal dominant
Microcephaly autosomal dominant
0.310 GermlineCausalMutation disease ORPHANET Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. 23832105 2013
CUI: C0220693
Disease: Microcephaly autosomal dominant
Microcephaly autosomal dominant
0.310 GeneticVariation disease BEFREE Our data indicate that the loss-of-function variations in DPP6 are associated with autosomal dominant microcephaly and mental retardation. 23832105 2013