Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 CausalMutation disease CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 CausalMutation disease CLINVAR Refining the phenotype associated with MEF2C point mutations. 23001426 2013
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 CausalMutation disease CLINVAR Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. 20513142 2010
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 Biomarker disease GENOMICS_ENGLAND MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. 19592390 2010
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 CausalMutation disease CLINVAR MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. 19592390 2010
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 CausalMutation disease CLINVAR Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. 19876902 2009
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 Biomarker disease CTD_human
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.600 Biomarker disease GENOMICS_ENGLAND