※ PTMD 2.0 database Online Browse Options
Browse result for Palmoplantar keratoderma-esophageal carcinoma syndrome
※ introduction A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1.
Reference
DiseaseOntology: Palmoplantar keratoderma-esophageal carcinoma syndrome
Reference
DiseaseOntology: Palmoplantar keratoderma-esophageal carcinoma syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00076 | Q6PJF5 | 79651 | RHBDF2 | Inactive rhomboid protein 2 | Homo sapiens |