| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Albinism, Ocular | AP3D1 | disease | C0078917 | GeneticVariation | 0.4 | disgenet |
| Albinism, Ocular | AP3D1 | disease | C0078917 | Biomarker | 0.4 | disgenet |
| Albinism, Ocular | GPR143 | disease | C0078917 | GeneticVariation | 0.4 | disgenet |
| Albinism, Ocular | GPR143 | disease | C0078917 | Biomarker | 0.4 | disgenet |
| Albinism, Ocular | GNAI3 | disease | C0078917 | Biomarker | 0.31 | disgenet |
| Albinism, Ocular | SLC24A5 | disease | C0078917 | Biomarker | 0.21 | disgenet |
| Albinism, Ocular | TYR | disease | C0078917 | GeneticVariation | 0.14 | disgenet |
| Albinism, Ocular | TYR | disease | C0078917 | CausalMutation | 0.14 | disgenet |
| Albinism, Ocular | TYR | disease | C0078917 | Biomarker | 0.14 | disgenet |
| Albinism, Ocular | TYRP1 | disease | C0078917 | GeneticVariation | 0.13 | disgenet |
| Albinism, Ocular | TYRP1 | disease | C0078917 | Biomarker | 0.13 | disgenet |
| Albinism, Ocular | HPS1 | disease | C0078917 | GeneticVariation | 0.12 | disgenet |
| Albinism, Ocular | HPS1 | disease | C0078917 | Biomarker | 0.12 | disgenet |
| Albinism, Ocular | MITF | disease | C0078917 | GeneticVariation | 0.12 | disgenet |
| Albinism, Ocular | MITF | disease | C0078917 | Biomarker | 0.12 | disgenet |
| Albinism, Ocular | AP3B1 | disease | C0078917 | GeneticVariation | 0.11 | disgenet |
| Albinism, Ocular | HPS6 | disease | C0078917 | GeneticVariation | 0.11 | disgenet |
| Albinism, Ocular | HPS6 | disease | C0078917 | Biomarker | 0.11 | disgenet |
| Albinism, Ocular | AP3B1 | disease | C0078917 | Biomarker | 0.11 | disgenet |
| Albinism, Ocular | KCNAB2 | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | EPG5 | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | RERE | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | DTNBP1 | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | HPS4 | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | PRDM16 | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | LYST | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | BLOC1S6 | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | HPS5 | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | PMPCA | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | GABRD | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | SKI | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | BLOC1S3 | disease | C0078917 | Biomarker | 0.1 | disgenet |
| Albinism, Ocular | OCA2 | disease | C0078917 | Biomarker | 0.05 | disgenet |
| Albinism, Ocular | OCA2 | disease | C0078917 | GeneticVariation | 0.05 | disgenet |
| Albinism, Ocular | TBL1X | disease | C0078917 | GeneticVariation | 0.02 | disgenet |
| Albinism, Ocular | TBL1X | disease | C0078917 | Biomarker | 0.02 | disgenet |
| Albinism, Ocular | SLC45A2 | disease | C0078917 | GeneticVariation | 0.02 | disgenet |
| Albinism, Ocular | SLC45A2 | disease | C0078917 | Biomarker | 0.02 | disgenet |
| Albinism, Ocular | STS | disease | C0078917 | GeneticVariation | 0.02 | disgenet |
| Albinism, Ocular | MRX49 | disease | C0078917 | GeneticVariation | 0.01 | disgenet |
| Albinism, Ocular | FGL1 | disease | C0078917 | GeneticVariation | 0.01 | disgenet |
| Albinism, Ocular | FNDC3A | disease | C0078917 | GeneticVariation | 0.01 | disgenet |
| Albinism, Ocular | HERC2 | disease | C0078917 | GeneticVariation | 0.01 | disgenet |
| Albinism, Ocular | PAX6 | disease | C0078917 | GeneticVariation | 0.01 | disgenet |
| Albinism, Ocular | SLC38A8 | disease | C0078917 | Biomarker | 0.01 | disgenet |
| Albinism, Ocular | SHROOM2 | disease | C0078917 | GeneticVariation | 0.01 | disgenet |
| Albinism, Ocular | PLXNA2 | disease | C0078917 | Biomarker | 0.01 | disgenet |
| Albinism, Ocular | FRMD7 | disease | C0078917 | Biomarker | 0.01 | disgenet |
| Albinism, Ocular | ABCA4 | disease | C0078917 | GeneticVariation | 0.01 | disgenet |
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