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: C4551570
Disease:
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
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: rs1554944271
rs1554944271
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1866129
Disease:
Abnormality of the cerebellum 		G 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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1854882
Disease:
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: rs1057524157
rs1057524157
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1854882
Disease:
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: 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: rs1057519565
rs1057519565
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: 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: 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: C0001807
Disease:
Aggressive 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: 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: rs1554944271
rs1554944271
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0001807
Disease:
Aggressive behavior 		G 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: rs1564950387
rs1564950387
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1510586
Disease:
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
dbSNP: rs1057519565
rs1057519565
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0856975
Disease:
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: rs1554943158
rs1554943158
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0856975
Disease:
Autistic behavior 		C 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: rs1554944271
rs1554944271
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0856975
Disease:
Autistic behavior 		G 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: rs28364668
rs28364668
Entrez Id: 10522;64787;283232
Gene Symbol: DEAF1;EPS8L2;TMEM80
DEAF1;EPS8L2;TMEM80
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1554943158
rs1554943158
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1842364
Disease:
Central hypotonia 		C 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: rs1554943158
rs1554943158
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0007758
Disease:
Cerebellar Ataxia 		C 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: rs1554944271
rs1554944271
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551649
Disease:
Congenital Dysplasia Of The Hip 		G 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: rs1554944271
rs1554944271
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0009806
Disease:
Constipation 		G 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
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: 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: 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: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4310683
Disease:
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		A 0.700 GeneticVariation CLINVAR 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