| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Aspartylglucosaminuria | AGA | phenotype | C0268225 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Aspartylglucosaminuria | AGA | phenotype | C0268225 | GeneticVariation | 1 | orphanet , disgenet |
| Aspartylglucosaminuria | AGA | phenotype | C0268225 | CausalMutation | 1 | orphanet , disgenet |
| Aspartylglucosaminuria | AGA | phenotype | C0268225 | AlteredExpression | 1 | orphanet , disgenet |
| Aspartylglucosaminuria | AGA | phenotype | C0268225 | Biomarker | 1 | orphanet , disgenet |
| Aspartylglucosaminuria | FLNA | phenotype | C0268225 | Biomarker | 0.01 | disgenet |
| Aspartylglucosaminuria | GYPE | phenotype | C0268225 | Biomarker | 0.01 | disgenet |
| Aspartylglucosaminuria | AVP | phenotype | C0268225 | Biomarker | 0.01 | disgenet |
| Aspartylglucosaminuria | GYPB | phenotype | C0268225 | Biomarker | 0.01 | disgenet |
| Aspartylglucosaminuria | SMARCA1 | phenotype | C0268225 | Biomarker | 0.01 | disgenet |
| Aspartylglucosaminuria | EGF | phenotype | C0268225 | GeneticVariation | 0.01 | disgenet |
| Aspartylglucosaminuria | FN1 | phenotype | C0268225 | AlteredExpression | 0.01 | disgenet |
| Aspartylglucosaminuria | GYPA | phenotype | C0268225 | Biomarker | 0.01 | disgenet |
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