GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Monosomy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026499
Disease: Monosomy
Monosomy 		0.010 Biomarker group BEFREE Based on these findings and recent studies showing that haploinsufficiency for other cardiac transcription factor genes (e.g., TBX5, NKX2-5) causes congenital heart disease, we postulate that GATA-4 deficiency may contribute to the phenotype of patients with monosomy of 8p23.1. 10096597 1999