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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation group BEFREE Deleterious mutations within the DNA binding domain of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of neurodevelopmental disorders including intellectual disabilities and autism spectrum disorders. 31783086 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker group BEFREE Deformed epidermal autoregulatory factor-1 (DEAF1), a transcription factor essential for central nervous system and early embryonic development, has recently been implicated in a series of intellectual disability-related neurodevelopmental anomalies termed, in this study, as DEAF1-associated neurodevelopmental disorder (DAND). 28940898 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker group BEFREE Retinoic acid is crucial for early development of the central neural system, and DEAF1 is associated with intellectual disability. 26743651 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation group 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation group BEFREE A recent report has shown dominant DEAF1 mutations to occur de novo in patients with intellectual disability. 26048982 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation group BEFREE Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. 24726472 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation group BEFREE Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems Vulto-van Silfhout et al. 25091821 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker group CTD_human A de novo paradigm for mental retardation. 21076407 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker group HPO