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: rs587777406
rs587777406
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs587777408
rs587777408
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs587777408
rs587777408
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
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
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407 2010
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: rs587777407
rs587777407
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs587777407
rs587777407
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 GeneticVariation UNIPROT Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 24726472 2014
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C3714756
Disease:
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
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0025958
Disease:
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
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0270612
Disease:
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
dbSNP: rs587777408
rs587777408
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		A 0.800 CausalMutation CLINVAR
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
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 24726472 2014
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex. 22442688 2012
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0557874
Disease:
Global developmental delay 		A 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: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1858120
Disease:
Generalized hypotonia 		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
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		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
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4310683
Disease:
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1858120
Disease:
Generalized hypotonia 		A 0.700 GeneticVariation CLINVAR Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 24668509 2014
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1858120
Disease:
Generalized hypotonia 		A 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: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551563
Disease:
Microcephaly (physical finding) 		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
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551563
Disease:
Microcephaly (physical finding) 		A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016