TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Disease: Cleft upper lip ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.410 CausalMutation disease CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.410 Biomarker disease BEFREE Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 18836445 2008
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.410 Biomarker disease GENOMICS_ENGLAND Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 10767004 2000
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.410 Biomarker disease HPO