ADULT syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. (Human Disease Ontology, DOID_0050601)
External Link http://www.omim.org/entry/103285
Similar Terms
Downloads & Tools

Genes

1 genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
TP63 tumor protein p63