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Browse result for Adams-Oliver syndrome
※ introduction Adams¨COliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin.
Reference
Wiki: Adams-Oliver syndrome
Reference
Wiki: Adams-Oliver syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00179 | P46531 | 4851 | NOTCH1 | Neurogenic locus notch homolog protein 1 [Cleaved into: Notch 1 extracellular truncation ; Notch 1 intracellular domain ] | Homo sapiens |
| PTMD06245 | Q06330 | 3516 | RBPJ | Recombining binding protein suppressor of hairless | Homo sapiens |