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: 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: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		0.810 GeneticVariation UNIPROT TFAP2A mutations result in branchio-oculo-facial syndrome. 18423521 2008
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome 		0.810 GeneticVariation BEFREE DNA analysis of the TFAP2A gene associated with BOFS using DNA sequencing detected a mutation [c.763A>G (p.Arg255Gly)] in two unrelated patients. 20358615 2010
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 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 19764023 2009
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: 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: C0235752
Disease:
Port-Wine Stain 		C 0.700 CausalMutation CLINVAR
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: 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: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Further delineation of the branchio-oculo-facial syndrome. 7747785 1995
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: 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
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0341787
Disease:
Bifid scrotum 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0452136
Disease:
Conductive hearing loss, bilateral 		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: C0038379
Disease:
Strabismus 		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: C0008924
Disease:
Cleft upper lip 		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: C0432072
Disease:
Dysmorphic features 		A 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: C0432072
Disease:
Dysmorphic features 		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: C4551492
Disease:
Micropenis 		C 0.700 CausalMutation CLINVAR
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 Further delineation of the branchio-oculo-facial syndrome. 7747785 1995
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 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: C1691215
Disease:
Penile hypospadias 		C 0.700 CausalMutation CLINVAR
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 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: C0238300
Disease:
Stenosis of nasolacrimal duct 		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