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Browse result for Pyruvate kinase deficiency of red cells
※ introduction A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.
Reference
DiseaseOntology: Pyruvate kinase deficiency of red cells
Reference
DiseaseOntology: Pyruvate kinase deficiency of red cells
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00421 | P30613 | 5313 | PKLR | Pyruvate kinase PKLR | Homo sapiens |