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Browse result for Saul-Wilson syndrome
※ introduction A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1.
Reference
DiseaseOntology: Saul-Wilson syndrome
Reference
DiseaseOntology: Saul-Wilson syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD12987 | Q9H9E3 | 25839 | COG4 | Conserved oligomeric Golgi complex subunit 4 | Homo sapiens |
