Branchiooculofacial syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (Human Disease Ontology, DOID_0050691)
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1 genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)