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Browse result for Baraitser-Winter syndrome
※ introduction A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
Reference
DiseaseOntology: Baraitser-Winter syndrome
Reference
DiseaseOntology: Baraitser-Winter syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD05768 | P60709 | 60 | ACTB | Actin, cytoplasmic 1 [Cleaved into: Actin, cytoplasmic 1, N-terminally processed] | Homo sapiens |
| PTMD05916 | P63261 | 71 | ACTG1 | Actin, cytoplasmic 2 [Cleaved into: Actin, cytoplasmic 2, N-terminally processed] | Homo sapiens |
