MBD5, methyl-CpG binding domain protein 5, 55777

N. diseases: 120; N. variants: 31
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 GeneticVariation disease BEFREE Exome sequencing disclosed a novel heterozygous pathogenic frameshift mutation of MBD5 that was considered to be causative for the combination of intellectual disability, treatment-resistant epilepsy and autism. 31290275 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 GeneticVariation disease BEFREE We previously reported that haploinsufficiency of MBD5 is the primary causal factor in 2q23.1 microdeletion syndrome and that mutations in MBD5 are associated with autism. 23632792 2014