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Browse result for Gray platelet syndrome
※ introduction A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
Reference
DiseaseOntology: Gray platelet syndrome
Reference
DiseaseOntology: Gray platelet syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD08541 | Q6ZNJ1 | 23218 | NBEAL2 | Neurobeachin-like protein 2 | Homo sapiens |
