Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 GeneticVariation disease UNIPROT Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. 27418539 2016
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 GeneticVariation disease UNIPROT TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. 26721934 2016
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 GermlineCausalMutation disease ORPHANET TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. 26721934 2016
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 Biomarker disease CTD_human
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 CausalMutation disease CLINVAR
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 GeneticVariation disease CLINVAR