| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cchs With Hirschsprung Disease | PHOX2B | disease | C1859049 | GermlineCausalMutation | 0.64 | orphanet , disgenet |
| Cchs With Hirschsprung Disease | PHOX2B | disease | C1859049 | CausalMutation | 0.64 | orphanet , disgenet |
| Cchs With Hirschsprung Disease | PHOX2B | disease | C1859049 | Biomarker | 0.64 | orphanet , disgenet |
| Cchs With Hirschsprung Disease | PHOX2B | disease | C1859049 | GeneticVariation | 0.64 | orphanet , disgenet |
| Cchs With Hirschsprung Disease | RET | disease | C1859049 | GeneticVariation | 0.51 | orphanet , disgenet |
| Cchs With Hirschsprung Disease | RET | disease | C1859049 | Biomarker | 0.51 | orphanet , disgenet |
| Cchs With Hirschsprung Disease | RET | disease | C1859049 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Cchs With Hirschsprung Disease | ASCL1 | disease | C1859049 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Cchs With Hirschsprung Disease | ASCL1 | disease | C1859049 | Biomarker | 0.5 | orphanet , disgenet |
| Cchs With Hirschsprung Disease | GDNF | disease | C1859049 | Biomarker | 0.3 | disgenet |
| Cchs With Hirschsprung Disease | EDN3 | disease | C1859049 | Biomarker | 0.3 | disgenet |
| Cchs With Hirschsprung Disease | CYP11B2 | disease | C1859049 | Biomarker | 0.01 | disgenet |
| Cchs With Hirschsprung Disease | CYP11B1 | disease | C1859049 | Biomarker | 0.01 | disgenet |
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