| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | HPS1 | disease | C2931875 | GeneticVariation | 0.94 | orphanet , disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | HPS1 | disease | C2931875 | Biomarker | 0.94 | orphanet , disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | HPS1 | disease | C2931875 | CausalMutation | 0.94 | orphanet , disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | RAB27A | disease | C2931875 | Biomarker | 0.2 | disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | AP3D1 | disease | C2931875 | Biomarker | 0.2 | disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | DTNBP1 | disease | C2931875 | CausalMutation | 0.1 | orphanet , disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | OCA2 | disease | C2931875 | GeneticVariation | 0.01 | disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | SLC45A2 | disease | C2931875 | GeneticVariation | 0.01 | disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | TYR | disease | C2931875 | GeneticVariation | 0.01 | disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | LYST | disease | C2931875 | GeneticVariation | 0.01 | disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | CD34 | disease | C2931875 | Biomarker | 0.01 | disgenet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | BLOC1S6 | NA | C2931875 | NA | NA | orphanet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | BLOC1S5 | NA | C2931875 | NA | NA | orphanet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | BLOC1S3 | NA | C2931875 | NA | NA | orphanet |
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | FLI1 | NA | C2931875 | NA | NA | orphanet |
| click here to return to the previous page | ||||||