TFAP2B, transcription factor AP-2 beta, 7021

N. diseases: 128; N. variants: 23
Disease: CHAR SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease BEFREE Mutations of TFAP2B produces Char syndrome. 30579973 2019
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 Biomarker disease GENOMICS_ENGLAND Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. 31292255 2019
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease BEFREE Pathogenic variants in the transcription factor gene TFAP2B have been shown to cause Char syndrome; however, there is significant phenotypic variability linked to variant location. 31012281 2019
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 Biomarker disease BEFREE Transcription factor TFAP2B is associated with Char syndrome in humans and is characterized by patent ductus arteriosus (PDA) and facial and finger abnormalities. 29804851 2018
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 CausalMutation disease CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671 2018
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease BEFREE Recently, we identified two TFAP2B mutations in two families without Char syndrome phenotype, c.601+5G>A and c.435_438delCCGG, and these TFAP2B mutations were associated with familial isolated PDA. 24507797 2014
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 Biomarker disease MGD Mutations in transcription factor TFAP2B cause Char syndrome, a human disorder characterized by PDA, facial dysmorphysm and hand anomalies. 21829553 2011
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease BEFREE Mutations in transcription factor TFAP2B cause Char syndrome, a human disorder characterized by PDA, facial dysmorphysm and hand anomalies. 21829553 2011
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease BEFREE Genetic research has identified the cause of syndromic forms of PDA, such as the TFAP2B mutations in Char syndrome. 19955832 2010
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease BEFREE Mutations in the gene encoding the TFAP2B transcription factor can cause Char syndrome with cardiac, craniofacial, and hand abnormalities. 18752453 2008
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease UNIPROT A syndromic form of this disorder, Char syndrome, is caused by mutation in TFAP2B, the gene encoding a neural crest-derived transcription factor. 15684060 2005
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease BEFREE Examination of these two kindreds for phenotypes that segregate with TFAP2B mutations identified several phenotypes not previously linked to Char syndrome. 15684060 2005
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease BEFREE Our present findings, combined with data about two previously identified TFAP2B mutations, show that dominant negative effects consistently appear to be involved in the etiology of Char syndrome. 11505339 2001
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease UNIPROT Our present findings, combined with data about two previously identified TFAP2B mutations, show that dominant negative effects consistently appear to be involved in the etiology of Char syndrome. 11505339 2001
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 Biomarker disease GENOMICS_ENGLAND Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. 10955477 2000
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease UNIPROT Our work shows that TFAP2B has a role in ductal, facial and limb development and suggests that Char syndrome results from derangement of neural-crest-cell derivatives. 10802654 2000
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 Biomarker disease GENOMICS_ENGLAND Familial occurrence of patent ductus arteriosus. 7645594 1995
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 Biomarker disease GENOMICS_ENGLAND
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 GeneticVariation disease CLINVAR
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		0.990 Biomarker disease CTD_human