| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Congenital Methemoglobinemia | CYB5R3 | disease | C0272087 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Congenital Methemoglobinemia | CYB5R3 | disease | C0272087 | GeneticVariation | 0.5 | orphanet , disgenet |
| Congenital Methemoglobinemia | CYB5R3 | disease | C0272087 | Biomarker | 0.5 | orphanet , disgenet |
| Congenital Methemoglobinemia | CYB5R3 | disease | C0272087 | CausalMutation | 0.5 | orphanet , disgenet |
| Congenital Methemoglobinemia | CYB5R3 | disease | C0272087 | AlteredExpression | 0.5 | orphanet , disgenet |
| Congenital Methemoglobinemia | CYB5A | disease | C0272087 | GeneticVariation | 0.32 | orphanet , disgenet |
| Congenital Methemoglobinemia | DLD | disease | C0272087 | Biomarker | 0.01 | disgenet |
| Congenital Methemoglobinemia | HBB | disease | C0272087 | GeneticVariation | 0.01 | orphanet , disgenet |
| Congenital Methemoglobinemia | HBG2 | disease | C0272087 | GeneticVariation | 0.01 | disgenet |
| Congenital Methemoglobinemia | DECR1 | disease | C0272087 | Biomarker | 0.01 | disgenet |
| Congenital Methemoglobinemia | HBA2 | NA | C0272087 | NA | NA | orphanet |
| Congenital Methemoglobinemia | HBA1 | NA | C0272087 | NA | NA | orphanet |
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