Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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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 | ||||
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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 | ||||
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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 | ||||
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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 | ||||
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0.470 | GeneticVariation | group | BEFREE | A recent report has shown dominant DEAF1 mutations to occur de novo in patients with intellectual disability. | 26048982 | 2015 | ||||
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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 | ||||
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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 | ||||
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0.470 | Biomarker | group | CTD_human | A de novo paradigm for mental retardation. | 21076407 | 2010 | ||||
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0.470 | Biomarker | group | HPO |