Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | phenotype | CLINVAR | Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. | 28940898 | 2017 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. | 28213671 | 2017 | ||||
|
0.100 | CausalMutation | phenotype | 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 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. | 26048982 | 2015 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. | 24726472 | 2014 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. | 24668509 | 2014 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Structural and functional analysis of the DEAF-1 and BS69 MYND domains. | 23372760 | 2013 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. | 23020937 | 2012 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex. | 22442688 | 2012 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | A de novo paradigm for mental retardation. | 21076407 | 2010 |