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Browse result for Familial platelet disorder
※ introduction A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.
Reference
DiseaseOntology: Familial platelet disorder
Reference
DiseaseOntology: Familial platelet disorder
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00345 | Q01196 | 861 | RUNX1 | Runt-related transcription factor 1 | Homo sapiens |
