DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: EEG with central focal spikes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes 		0.100 GeneticVariation phenotype CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017