TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Disease: Anophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.120 GeneticVariation disease BEFREE Dominant mutations in TFAP2A are associated with syndromic anophthalmia/microphthalmia and other ocular phenotypes as part of Branchio-Ocular-Facial-Syndrome (BOFS). 27609212 2016
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.120 AlteredExpression disease BEFREE In both cases, we observed synthetic, enhanced ocular phenotypes including coloboma and anophthalmia when tfap2a is knocked down in embryos with bmp4 or tcf7l1a mutations. 19685247 2009
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.120 Biomarker disease HPO