TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344525
rs151344525
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 20358615 2010
dbSNP: rs151344525
rs151344525
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 20358615 2010
dbSNP: rs151344530
rs151344530
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 20358615 2010
dbSNP: rs151344530
rs151344530
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 20358615 2010
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 21204207 2011
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 21204207 2011
dbSNP: rs151344525
rs151344525
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 21204207 2011
dbSNP: rs151344525
rs151344525
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 21204207 2011
dbSNP: rs151344530
rs151344530
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 21204207 2011
dbSNP: rs151344530
rs151344530
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 21204207 2011
dbSNP: rs758551492
rs758551492
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0810364
Disease:
Cleft Lip with or without Cleft Palate 		0.010 GeneticVariation BEFREE Prediction of SNP functionality revealed that the C allele in the C471T silent mutation (overrepresented in cases with CL(P) presents two putative exonic splicing enhancer motifs and creates a binding site AP-2 alpha, a transcription factor involved in craniofacial development. 20815724 2011
dbSNP: rs151344531
rs151344531
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		0.710 GeneticVariation BEFREE We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. 22276601 2012
dbSNP: rs151344531
rs151344531
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0020295
Disease:
Hydronephrosis 		0.010 GeneticVariation BEFREE We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. 22276601 2012
dbSNP: rs202002859
rs202002859
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0152021
Disease:
Congenital heart disease 		0.010 GeneticVariation BEFREE By screening 1126 sporadic congenital heart disease (CHD) cases and 1227 controls, we identified 19 variants, including 5 unique non-synonymous sequence variations (N62S, R92G, T166N, G180-A187del and A187T) in patients. 23082118 2012
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 23578821 2013
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 23578821 2013
dbSNP: rs151344525
rs151344525
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 23578821 2013
dbSNP: rs151344525
rs151344525
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 23578821 2013
dbSNP: rs151344530
rs151344530
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 23578821 2013
dbSNP: rs151344530
rs151344530
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 23578821 2013
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		C 0.810 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C3540764
Disease:
Coloboma of the Retina 		C 0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C1836678
Disease:
Abnormality of the middle ear ossicles 		C 0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C1862066
Disease:
Branchial anomaly 		C 0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C2676973
Disease:
Dilatated internal auditory canal 		C 0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015