DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0085271
Disease:
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
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0557874
Disease:
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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0040822
Disease:
Tremor 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0001807
Disease:
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
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
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
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1836830
Disease:
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: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0016202
Disease:
Flatfoot 		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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0747085
Disease:
Recurrent otitis media 		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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1969697
Disease:
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
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0085271
Disease:
Self-Injurious 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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551570
Disease:
2-3 toe syndactyly 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0037317
Disease:
Sleep disturbances 		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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1854882
Disease:
Absent speech 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0036572
Disease:
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: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4317146
Disease:
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: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0036572
Disease:
Seizures 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1843146
Disease:
Normal interictal EEG 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C2674608
Disease:
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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1969697
Disease:
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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1836830
Disease:
Developmental regression 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4317146
Disease:
Acid reflux 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0016202
Disease:
Flatfoot 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
dbSNP: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0557874
Disease:
Global developmental delay 		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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1843146
Disease:
Normal interictal EEG 		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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0040822
Disease:
Tremor 		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