DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. 26048982 2015