Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777406
rs587777406
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 GeneticVariation UNIPROT Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 24726472

2014
dbSNP: rs587777406
rs587777406
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407

2010
dbSNP: rs587777406
rs587777406
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		C 0.800 CausalMutation CLINVAR

dbSNP: rs587777408
rs587777408
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 GeneticVariation UNIPROT Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 24726472

2014
dbSNP: rs587777408
rs587777408
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407

2010
dbSNP: rs587777408
rs587777408
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777409
rs587777409
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 GeneticVariation UNIPROT Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 24726472

2014
dbSNP: rs587777409
rs587777409
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407

2010
dbSNP: rs587777409
rs587777409
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		G 0.800 CausalMutation CLINVAR

dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C1854882
Disease: Absent speech
Absent speech 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C0426870
Disease: Large hand
Large hand 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C4317146
Disease: Acid reflux
Acid reflux 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017