| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Sialic Acid Storage Disease | GNE | disease | C0342853 | GeneticVariation | 0.76 | orphanet , disgenet |
| Sialic Acid Storage Disease | GNE | disease | C0342853 | Biomarker | 0.76 | orphanet , disgenet |
| Sialic Acid Storage Disease | GNE | disease | C0342853 | CausalMutation | 0.76 | orphanet , disgenet |
| Sialic Acid Storage Disease | SLC17A5 | disease | C0342853 | Biomarker | 0.6 | disgenet |
| Sialic Acid Storage Disease | SLC17A5 | disease | C0342853 | GeneticVariation | 0.6 | disgenet |
| Sialic Acid Storage Disease | CLTA | disease | C0342853 | GeneticVariation | 0.1 | disgenet |
| Sialic Acid Storage Disease | CLTA | disease | C0342853 | CausalMutation | 0.1 | disgenet |
| Sialic Acid Storage Disease | MATN1 | disease | C0342853 | Biomarker | 0.02 | disgenet |
| Sialic Acid Storage Disease | RENBP | disease | C0342853 | GeneticVariation | 0.02 | disgenet |
| Sialic Acid Storage Disease | RENBP | disease | C0342853 | Biomarker | 0.02 | disgenet |
| Sialic Acid Storage Disease | CHIT1 | disease | C0342853 | AlteredExpression | 0.01 | disgenet |
| Sialic Acid Storage Disease | GH1 | disease | C0342853 | Biomarker | 0.01 | disgenet |
| Sialic Acid Storage Disease | EPO | disease | C0342853 | AlteredExpression | 0.01 | disgenet |
| Sialic Acid Storage Disease | LSAMP | disease | C0342853 | Biomarker | 0.01 | disgenet |
| Sialic Acid Storage Disease | ATP7A | disease | C0342853 | GeneticVariation | 0.01 | disgenet |
| Sialic Acid Storage Disease | LAMP3 | disease | C0342853 | Biomarker | 0.01 | disgenet |
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