| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hermansky Pudlak syndrome 2 | AP3B1 | disease | C1842362 | CausalMutation | 0.94 | disgenet |
| Hermansky Pudlak syndrome 2 | AP3B1 | disease | C1842362 | GermlineCausalMutation | 0.94 | disgenet |
| Hermansky Pudlak syndrome 2 | AP3B1 | disease | C1842362 | Biomarker | 0.94 | disgenet |
| Hermansky Pudlak syndrome 2 | AP3B1 | disease | C1842362 | GeneticVariation | 0.94 | disgenet |
| Hermansky Pudlak syndrome 2 | AP3D1 | disease | C1842362 | Biomarker | 0.2 | disgenet |
| Hermansky Pudlak syndrome 2 | TFF1 | disease | C1842362 | GeneticVariation | 0.02 | disgenet |
| Hermansky Pudlak syndrome 2 | TFF1 | disease | C1842362 | Biomarker | 0.02 | disgenet |
| Hermansky Pudlak syndrome 2 | BHLHE22 | disease | C1842362 | Biomarker | 0.01 | disgenet |
| Hermansky Pudlak syndrome 2 | GOLPH3 | disease | C1842362 | Biomarker | 0.01 | disgenet |
| Hermansky Pudlak syndrome 2 | HPS5 | NA | C1842362 | NA | NA | orphanet |
| Hermansky Pudlak syndrome 2 | HPS3 | NA | C1842362 | NA | NA | orphanet |
| Hermansky Pudlak syndrome 2 | HPS6 | NA | C1842362 | NA | NA | orphanet |
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