| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
0.800 | GeneticVariation | disease | CLINVAR | |||||||
|
0.310 | Biomarker | disease | CTD_human | Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. | 12834866 | 2003 | ||||
|
0.310 | GeneticVariation | disease | BEFREE | In light of these issues, we selected the BOR locus (EYA1) as a possible gene mutation for the BOF syndrome. | 10767004 | 2000 | ||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.100 | GeneticVariation | disease | CLINVAR | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome). | 26332872 | 2016 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Therefore, it remains unclear if all BOFS mutations result in similar changes to the AP-2α protein or if they each produce specific alterations that underlie the spectrum of phenotypes. | 23578821 | 2013 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. | 23541344 | 2013 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | TFAP2A has been seen involved in orofacial development in mice; it is located in the NSCLP candidate region 6p24; it codes for a transcription factor which regulates expression of IRF6, a gene implied in NSCLP; finally, it is embroiled in the branchiooculofacial syndrome, that includes clefting as feature. | 21781438 | 2013 |