rs1057524157, DEAF1

N. diseases: 19
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017