Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 Biomarker disease GENOMICS_ENGLAND Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 GeneticVariation disease UNIPROT Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 GeneticVariation disease UNIPROT Novel MCA/ID syndrome with ASH1L mutation. 28394464 2017
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 GeneticVariation disease UNIPROT De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329 2016
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 GeneticVariation disease UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012