TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 23578821 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 23578821 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 21204207 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 21204207 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 20358615 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 20358615 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 19764023 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 19764023 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Further delineation of the branchio-oculo-facial syndrome. 7747785 1995
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Further delineation of the branchio-oculo-facial syndrome. 7747785 1995