※ PTMD 2.0 database Online Browse Options
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
Reference
DiseaseOntology: Pierpont syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD12419 | Q9BZK7 | 79718 | TBL1XR1 | F-box-like/WD repeat-containing protein TBL1XR1 | Homo sapiens |
