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Browse result for Platelet-type bleeding disorder
※ introduction A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.
Reference
DiseaseOntology: Platelet-type bleeding disorder
Reference
DiseaseOntology: Platelet-type bleeding disorder
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD04125 | P12814 | 87 | ACTN1 | Alpha-actinin-1 | Homo sapiens |
