Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.700 Biomarker disease GENOMICS_ENGLAND De novo and biallelic DEAF1 variants cause a phenotypic spectrum. 30923367 2019
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
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
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
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
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
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.700 Biomarker disease GENOMICS_ENGLAND A de novo paradigm for mental retardation. 21076407 2010
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.700 Biomarker disease CTD_human