| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Sitosterolemia | ABCG8 | disease | C0342907 | GeneticVariation | 1 | orphanet , disgenet |
| Sitosterolemia | ABCG8 | disease | C0342907 | Biomarker | 1 | orphanet , disgenet |
| Sitosterolemia | ABCG8 | disease | C0342907 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Sitosterolemia | ABCG5 | disease | C0342907 | AlteredExpression | 0.8 | orphanet , disgenet |
| Sitosterolemia | ABCG5 | disease | C0342907 | Biomarker | 0.8 | orphanet , disgenet |
| Sitosterolemia | ABCG5 | disease | C0342907 | GeneticVariation | 0.8 | orphanet , disgenet |
| Sitosterolemia | ABCG5 | disease | C0342907 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Sitosterolemia | ABCG5 | disease | C0342907 | CausalMutation | 0.8 | orphanet , disgenet |
| Sitosterolemia | ABCG2 | disease | C0342907 | GeneticVariation | 0.01 | disgenet |
| Sitosterolemia | SREBF2 | disease | C0342907 | AlteredExpression | 0.01 | disgenet |
| Sitosterolemia | CNBP | disease | C0342907 | AlteredExpression | 0.01 | disgenet |
| Sitosterolemia | PCSK9 | disease | C0342907 | Biomarker | 0.01 | disgenet |
| Sitosterolemia | APOB | disease | C0342907 | Biomarker | 0.01 | disgenet |
| Sitosterolemia | ABCA1 | disease | C0342907 | Biomarker | 0.01 | disgenet |
| Sitosterolemia | NPC1L1 | disease | C0342907 | GeneticVariation | 0.01 | disgenet |
| Sitosterolemia | SREBF1 | disease | C0342907 | Biomarker | 0.01 | disgenet |
| Sitosterolemia | HMGCR | disease | C0342907 | AlteredExpression | 0.01 | disgenet |
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