TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Disease: Cleft Palate ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 GeneticVariation disease BEFREE Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associated with mutations in the TFAP2A gene. 25590586 2015
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease HPO