| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Megacolon | SLC8A1 | phenotype | C0025160 | Biomarker | 0.3 | disgenet |
| Megacolon | EDNRB | phenotype | C0025160 | Biomarker | 0.2 | disgenet |
| Megacolon | IHH | phenotype | C0025160 | GeneticVariation | 0.1 | disgenet |
| Megacolon | SOX10 | phenotype | C0025160 | CausalMutation | 0.1 | disgenet |
| Megacolon | POLR2F | phenotype | C0025160 | CausalMutation | 0.1 | disgenet |
| Megacolon | EDN3 | phenotype | C0025160 | GeneticVariation | 0.1 | disgenet |
| Megacolon | RET | phenotype | C0025160 | GeneticVariation | 0.1 | disgenet |
| Megacolon | BBS10 | phenotype | C0025160 | GeneticVariation | 0.1 | disgenet |
| Megacolon | RET | phenotype | C0025160 | CausalMutation | 0.1 | disgenet |
| Megacolon | SMC3 | phenotype | C0025160 | GeneticVariation | 0.1 | disgenet |
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