※ PTMD 2.0 database Online Browse Options
Browse result for congenital symmetric circumferential skin creases 1
※ introduction A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33.
Reference
DiseaseOntology: congenital symmetric circumferential skin creases 1
Reference
DiseaseOntology: congenital symmetric circumferential skin creases 1
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03833 | P07437 | 20306 | TUBB | Tubulin beta chain | Homo sapiens |
| PTMD06987 | Q15555 | 10982 | MAPRE2 | Microtubule-associated protein RP/EB family member 2 | Homo sapiens |
