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 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777408
rs587777408
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777409
rs587777409
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1057519565
rs1057519565
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886040972
rs886040972
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4014414
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		G 0.700 CausalMutation CLINVAR Ion channel variation causes epilepsies. 11690625 2001
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: 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: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR 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 A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex. 22442688 2012
dbSNP: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex. 22442688 2012
dbSNP: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation 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: 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: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
dbSNP: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
dbSNP: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation 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: 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: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR Structural and functional analysis of the DEAF-1 and BS69 MYND domains. 23372760 2013
dbSNP: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Structural and functional analysis of the DEAF-1 and BS69 MYND domains. 23372760 2013
dbSNP: rs1554944527
rs1554944527
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Structural and functional analysis of the DEAF-1 and BS69 MYND domains. 23372760 2013
dbSNP: rs587777623
rs587777623
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Structural and functional analysis of the DEAF-1 and BS69 MYND domains. 23372760 2013