rs587777623
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Intellectual Disability
0.010
GeneticVariation
BEFREE
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
26834045
2016
rs587777623
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Microcephaly
0.010
GeneticVariation
BEFREE
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
26834045
2016
rs587777623
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Leukoencephalopathy
0.010
GeneticVariation
BEFREE
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
26834045
2016
rs1564950387
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Autism Spectrum Disorders
C
0.700
GeneticVariation
CLINVAR
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
30763456
2019
rs28364668
DEAF1;EPS8L2;TMEM80
Body Height
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs1057519565
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057519565
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057519565
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057519565
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057519565
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057519565
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057519565
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057519565
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057519565
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Overriding toe
T
0.700
GeneticVariation
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671
2017
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Aggressive behavior
T
0.700
GeneticVariation
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671
2017
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
2-3 toe syndactyly
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
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Self-Injurious 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
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Global developmental delay
T
0.700
GeneticVariation
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671
2017
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Tremor
T
0.700
GeneticVariation
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671
2017
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Aggressive 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
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
T
0.700
GeneticVariation
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671
2017
rs1057524157
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
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