rs1057519565, DEAF1

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
0.700 GeneticVariation 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
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
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Large hand
CUI: C0426870
Disease: Large hand
0.700 GeneticVariation 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
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.700 CausalMutation CLINVAR