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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD08541Q6ZNJ123218
NBEAL2
Neurobeachin-like protein 2
Homo sapiens