DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 GeneticVariation disease UNIPROT Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 24726472 2014
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 GeneticVariation disease UNIPROT A de novo paradigm for mental retardation. 21076407 2010
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 Biomarker disease GENOMICS_ENGLAND A de novo paradigm for mental retardation. 21076407 2010
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 Biomarker disease CTD_human
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 GeneticVariation disease CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. 26048982 2015
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 GeneticVariation disease CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 CausalMutation disease CLINVAR Ion channel variation causes epilepsies. 11690625 2001
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 GeneticVariation disease 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
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 GermlineCausalMutation disease ORPHANET Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. 26048982 2015
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 Biomarker disease GENOMICS_ENGLAND De novo and biallelic DEAF1 variants cause a phenotypic spectrum. 30923367 2019
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 GeneticVariation disease CLINVAR Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 24668509 2014
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 GeneticVariation disease CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 GeneticVariation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 Biomarker disease GENOMICS_ENGLAND A de novo paradigm for mental retardation. 21076407 2010
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 Biomarker disease CTD_human
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 GeneticVariation disease BEFREE In a controlled, univariate model, an interaction between the [C]-allele and physical activity indicated that only among athletes, the variant resulting in an imperfect NUDR binding site was associated with a lower depression score. 26866771 2015
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Chronic social defeat downregulates the 5-HT1A receptor but not Freud-1 or NUDR in the rat prefrontal cortex. 20026183 2010
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET These results point to the importance of understanding the mechanism for the differential regulation of Freud-1 and NUDR in the PFC as a basis for understanding the related effects of chronic stress on the serotonin system (serotonin-related transcription factors) and stress-related disorders like depression. 19647046 2009
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Cell-specific repressor or enhancer activities of Deaf-1 at a serotonin 1A receptor gene polymorphism. 16467535 2006
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET 5-HT1A receptors, gene repression, and depression: guilt by association. 15534042 2004
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 GeneticVariation disease BEFREE In a controlled, univariate model, an interaction between the [C]-allele and physical activity indicated that only among athletes, the variant resulting in an imperfect NUDR binding site was associated with a lower depression score. 26866771 2015
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET 5-HT1A receptors, gene repression, and depression: guilt by association. 15534042 2004
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET Chronic social defeat downregulates the 5-HT1A receptor but not Freud-1 or NUDR in the rat prefrontal cortex. 20026183 2010