MBD5, methyl-CpG binding domain protein 5, 55777

N. diseases: 120; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		0.610 Biomarker disease BEFREE Both MRD0+/MRD1+ and MRD0+/MRD1- patients had a significantly worse EFS (p = 0.0001) than those with undetectable MRD at both MRD0 and MRD1. 26449287 2017
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		0.610 GeneticVariation disease UNIPROT Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		0.610 GeneticVariation disease UNIPROT Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. 17847001 2007
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		0.610 Biomarker disease CTD_human
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 Biomarker disease PSYGENET We identified heterogeneous, multisystem pathogenic effects of MBD5 disruption and characterized the associated spectrum of psychopathology, including the novel finding of anxiety and bipolar disorder in multiple patients. 23587880 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 GeneticVariation disease BEFREE We identified heterogeneous, multisystem pathogenic effects of MBD5 disruption and characterized the associated spectrum of psychopathology, including the novel finding of anxiety and bipolar disorder in multiple patients. 23587880 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C4304532
Disease: 2q23.1 microdeletion syndrome
2q23.1 microdeletion syndrome 		0.300 ChromosomalRearrangement disease ORPHANET The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 19809484 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy. 28807762 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 Biomarker group BEFREE To further elucidate the involvement of MBD5 in ID, we sequenced ten coding, five non-coding exons and an evolutionary conserved region in intron 2, in a selected cohort of 78 subjects with a phenotype reminiscent of 2q23.1 microdeletion syndrome. 23422940 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE Notably a deletion in a psychotic VCFS patient at 2q23.1 hit the gene MBD5 which when deleted gives rise to intellectual disability, epilepsy, and autistic features. 23335482 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 Biomarker group BEFREE MBD5, the only gene deleted in all patients, is considered to be responsible for ID and epilepsy. 22407754 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE Partial or complete deletion of MBD5 was associated with haploinsufficiency of mRNA expression, intellectual disability, epilepsy, and autistic features. 21981781 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 Biomarker group HPO
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
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 GeneticVariation disease BEFREE Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. 28807762 2017
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.110 Biomarker phenotype BEFREE MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. 25271084 2015