MBD5, methyl-CpG binding domain protein 5, 55777

N. diseases: 120; N. variants: 31
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype BEFREE 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features. 22085995 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype BEFREE 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features. 22659271 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype BEFREE Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. 19904302 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype HPO