DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: Leukoencephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.020 GeneticVariation group BEFREE We conclude that this DEAF1 gene alteration caused this patient's symptoms and that white matter disease should not be considered a obligate feature of this syndrome. 26834045 2016
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.020 GeneticVariation group BEFREE Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 24668509 2014