Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
0.700 GeneticVariation disease CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
0.700 Biomarker disease CTD_human
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
0.700 Biomarker disease GENOMICS_ENGLAND
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
0.700 GermlineCausalMutation disease ORPHANET GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. 23644463 2013
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
0.700 CausalMutation disease CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 2017