Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51341
Gene Symbol: ZBTB7A
ZBTB7A
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 GeneticVariation 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