| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pyruvate Kinase Deficiency of Red Cells | PKLR | disease | C0340968 | Biomarker | 1 | orphanet , disgenet |
| Pyruvate Kinase Deficiency of Red Cells | PKLR | disease | C0340968 | CausalMutation | 1 | orphanet , disgenet |
| Pyruvate Kinase Deficiency of Red Cells | PKLR | disease | C0340968 | GeneticVariation | 1 | orphanet , disgenet |
| Pyruvate Kinase Deficiency of Red Cells | PKLR | disease | C0340968 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Pyruvate Kinase Deficiency of Red Cells | HK1 | disease | C0340968 | Biomarker | 0.02 | disgenet |
| Pyruvate Kinase Deficiency of Red Cells | HK1 | disease | C0340968 | GeneticVariation | 0.02 | disgenet |
| Pyruvate Kinase Deficiency of Red Cells | LPA | disease | C0340968 | GeneticVariation | 0.01 | disgenet |
| Pyruvate Kinase Deficiency of Red Cells | GBA | disease | C0340968 | GeneticVariation | 0.01 | disgenet |
| Pyruvate Kinase Deficiency of Red Cells | SLC2A1 | disease | C0340968 | Biomarker | 0.01 | disgenet |
| Pyruvate Kinase Deficiency of Red Cells | CR1 | disease | C0340968 | GeneticVariation | 0.01 | disgenet |
| Pyruvate Kinase Deficiency of Red Cells | HAMP | disease | C0340968 | Biomarker | 0.01 | disgenet |
| Pyruvate Kinase Deficiency of Red Cells | G6PD | disease | C0340968 | Biomarker | 0.01 | disgenet |
| Pyruvate Kinase Deficiency of Red Cells | MTHFR | disease | C0340968 | GeneticVariation | 0.01 | disgenet |
| Pyruvate Kinase Deficiency of Red Cells | NTRK1 | disease | C0340968 | GeneticVariation | 0.01 | disgenet |
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