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Browse result for Pierpont syndrome

※ introduction

    An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26.

Reference
DiseaseOntology: Pierpont syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD12419Q9BZK779718
TBL1XR1
F-box-like/WD repeat-containing protein TBL1XR1
Homo sapiens