Deficiency of pyruvate kinase
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Deficiency of pyruvate kinase | C0340968 | PKLR | Causal Pathogenic evidence from ClinVar | 1536957, 1896471, 2018831, 7655861, 7706479, 7919353, 7948315, 8161798, 8180378, 8476433, 8481523, 8483951, 8664896, 9057665, 9389718, 9482576, 9827908, 9886305, 10923218, 11054094, 11328279, 11698298, 11960989, 12393511, 15953013, 16704447, 17574881, 18759866, 19085939, 21794208, 21815188, 26658699, 26728349, 27346685, 27871768, 28133914 | ClinVar |