| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Urofacial syndrome | HPSE2 | disease | C0403555 | GeneticVariation | 0.89 | orphanet , disgenet |
| Urofacial syndrome | HPSE2 | disease | C0403555 | CausalMutation | 0.89 | orphanet , disgenet |
| Urofacial syndrome | HPSE2 | disease | C0403555 | Biomarker | 0.89 | orphanet , disgenet |
| Urofacial syndrome | LRIG2 | disease | C0403555 | GermlineCausalMutation | 0.64 | orphanet , disgenet |
| Urofacial syndrome | LRIG2 | disease | C0403555 | GeneticVariation | 0.64 | orphanet , disgenet |
| Urofacial syndrome | LRIG2 | disease | C0403555 | Biomarker | 0.64 | orphanet , disgenet |
| Urofacial syndrome | HPSE | disease | C0403555 | GeneticVariation | 0.03 | disgenet |
| Urofacial syndrome | HPSE | disease | C0403555 | Biomarker | 0.03 | disgenet |
| Urofacial syndrome | GOT1 | disease | C0403555 | Biomarker | 0.02 | disgenet |
| Urofacial syndrome | CNNM1 | disease | C0403555 | Biomarker | 0.01 | disgenet |
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