DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: EEG with central focal spikes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554944271
rs1554944271
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4023077
Disease:
EEG with central focal spikes 		G 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017