Disease: Sleep Apnea Syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		0.010 GeneticVariation disease BEFREE We identified a de novo likely pathogenic heterozygous missense variant of ZBTB7A (NM_015898.3:c.1152C>G, p.(Cys384Trp)) in a Japanese boy with macrocephaly, intellectual disability, and sleep apnea. 31645653 2020