TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Disease: Retinal defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154823
Disease: Retinal defect
Retinal defect 		0.010 Biomarker phenotype BEFREE Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. 19685247 2009