| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cystinuria | SLC3A1 | disease | C0010691 | AlteredExpression | 1 | disgenet |
| Cystinuria | SLC7A9 | disease | C0010691 | Biomarker | 1 | disgenet |
| Cystinuria | SLC7A9 | disease | C0010691 | AlteredExpression | 1 | disgenet |
| Cystinuria | SLC7A9 | disease | C0010691 | CausalMutation | 1 | disgenet |
| Cystinuria | SLC7A9 | disease | C0010691 | GeneticVariation | 1 | disgenet |
| Cystinuria | SLC3A1 | disease | C0010691 | GeneticVariation | 1 | disgenet |
| Cystinuria | SLC3A1 | disease | C0010691 | Biomarker | 1 | disgenet |
| Cystinuria | SLC3A1 | disease | C0010691 | CausalMutation | 1 | disgenet |
| Cystinuria | PREPL | disease | C0010691 | Biomarker | 0.11 | orphanet , disgenet |
| Cystinuria | PREPL | disease | C0010691 | CausalMutation | 0.11 | orphanet , disgenet |
| Cystinuria | PREPL | disease | C0010691 | GeneticVariation | 0.11 | orphanet , disgenet |
| Cystinuria | PPM1B | disease | C0010691 | Biomarker | 0.1 | disgenet |
| Cystinuria | CAMKMT | disease | C0010691 | Biomarker | 0.1 | orphanet , disgenet |
| Cystinuria | SLC7A7 | disease | C0010691 | GeneticVariation | 0.02 | disgenet |
| Cystinuria | SLC7A10 | disease | C0010691 | GeneticVariation | 0.02 | disgenet |
| Cystinuria | SLC7A10 | disease | C0010691 | Biomarker | 0.02 | disgenet |
| Cystinuria | TRIP4 | disease | C0010691 | Biomarker | 0.01 | disgenet |
| Cystinuria | CYCS | disease | C0010691 | Biomarker | 0.01 | disgenet |
| Cystinuria | SLC3A2 | disease | C0010691 | GeneticVariation | 0.01 | disgenet |
| Cystinuria | DDX39A | disease | C0010691 | AlteredExpression | 0.01 | disgenet |
| Cystinuria | CCL21 | disease | C0010691 | GeneticVariation | 0.01 | disgenet |
| Cystinuria | HLCS | disease | C0010691 | Biomarker | 0.01 | disgenet |
| Cystinuria | KAT8 | disease | C0010691 | Biomarker | 0.01 | disgenet |
| Cystinuria | HNF1A | disease | C0010691 | AlteredExpression | 0.01 | disgenet |
| Cystinuria | DDX39B | disease | C0010691 | AlteredExpression | 0.01 | disgenet |
| Cystinuria | PBX1 | disease | C0010691 | GeneticVariation | 0.01 | disgenet |
| Cystinuria | SLC1A5 | disease | C0010691 | GeneticVariation | 0.01 | disgenet |
| Cystinuria | RPL3 | disease | C0010691 | Biomarker | 0.01 | disgenet |
| Cystinuria | AGXT | disease | C0010691 | GeneticVariation | 0.01 | disgenet |
| Cystinuria | SLC7A13 | disease | C0010691 | GeneticVariation | 0.01 | disgenet |
| Cystinuria | SLC1A5 | disease | C0010691 | Biomarker | 0.01 | disgenet |
| Cystinuria | PAH | disease | C0010691 | Biomarker | 0.01 | disgenet |
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