Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 GeneticVariation disease CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 GeneticVariation disease CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 Biomarker disease GENOMICS_ENGLAND Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. 26048982 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 GeneticVariation disease UNIPROT Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 24726472 2014
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 GeneticVariation disease UNIPROT A de novo paradigm for mental retardation. 21076407 2010
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 Biomarker disease GENOMICS_ENGLAND A de novo paradigm for mental retardation. 21076407 2010
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 CausalMutation disease CLINVAR Ion channel variation causes epilepsies. 11690625 2001
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 Biomarker disease CTD_human
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 Biomarker disease GENOMICS_ENGLAND