MBD5, methyl-CpG binding domain protein 5, 55777

N. diseases: 120; N. variants: 31
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. 19904302 2010
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO