Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 AlteredExpression disease BEFREE Second, we determined that TFAP2A is expressed in the lens, neural retina, nasal process, and epithelial lining of the oral cavity and palatal shelves of human and mouse embryos--sites consistent with the phenotype observed in patients with BOFS. 19685247 2009
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 GeneticVariation disease BEFREE Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome. 19206157 2009
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 GeneticVariation disease BEFREE Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 19764023 2009
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 Biomarker disease CTD_human Second, we determined that TFAP2A is expressed in the lens, neural retina, nasal process, and epithelial lining of the oral cavity and palatal shelves of human and mouse embryos--sites consistent with the phenotype observed in patients with BOFS. 19685247 2009
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 Biomarker disease GENOMICS_ENGLAND We conclude BOFS is caused by mutations involving TFAP2A. 18423521 2008
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 GermlineCausalMutation disease ORPHANET We conclude BOFS is caused by mutations involving TFAP2A. 18423521 2008
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 GeneticVariation disease UNIPROT We conclude BOFS is caused by mutations involving TFAP2A. 18423521 2008
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 GeneticVariation disease BEFREE We conclude BOFS is caused by mutations involving TFAP2A. 18423521 2008
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 Biomarker disease GENOMICS_ENGLAND Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 10767004 2000
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 Biomarker disease GENOMICS_ENGLAND Physical and genetic localization of the gene encoding the AP-2 transcription factor to mouse chromosome 13. 8824807 1996
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.800 GeneticVariation disease CLINVAR