| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Albinism, oculocutaneous, type 2 | OCA2 | disease | C0268495 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Albinism, oculocutaneous, type 2 | OCA2 | disease | C0268495 | Biomarker | 0.8 | orphanet , disgenet |
| Albinism, oculocutaneous, type 2 | OCA2 | disease | C0268495 | GeneticVariation | 0.8 | orphanet , disgenet |
| Albinism, oculocutaneous, type 2 | OCA2 | disease | C0268495 | CausalMutation | 0.8 | orphanet , disgenet |
| Albinism, oculocutaneous, type 2 | MC1R | disease | C0268495 | Biomarker | 0.63 | orphanet , disgenet |
| Albinism, oculocutaneous, type 2 | MC1R | disease | C0268495 | GermlineModifyingMutation | 0.63 | orphanet , disgenet |
| Albinism, oculocutaneous, type 2 | MC1R | disease | C0268495 | GeneticVariation | 0.63 | orphanet , disgenet |
| Albinism, oculocutaneous, type 2 | TYR | disease | C0268495 | GeneticVariation | 0.09 | disgenet |
| Albinism, oculocutaneous, type 2 | TYR | disease | C0268495 | Biomarker | 0.09 | disgenet |
| Albinism, oculocutaneous, type 2 | TYR | disease | C0268495 | AlteredExpression | 0.09 | disgenet |
| Albinism, oculocutaneous, type 2 | TYRP1 | disease | C0268495 | GeneticVariation | 0.03 | disgenet |
| Albinism, oculocutaneous, type 2 | HERC2 | disease | C0268495 | Biomarker | 0.02 | disgenet |
| Albinism, oculocutaneous, type 2 | HERC2 | disease | C0268495 | GeneticVariation | 0.02 | disgenet |
| Albinism, oculocutaneous, type 2 | LINC01194 | disease | C0268495 | GeneticVariation | 0.01 | disgenet |
| Albinism, oculocutaneous, type 2 | GABRA5 | disease | C0268495 | Biomarker | 0.01 | disgenet |
| Albinism, oculocutaneous, type 2 | GPR143 | disease | C0268495 | GeneticVariation | 0.01 | disgenet |
| Albinism, oculocutaneous, type 2 | SLC45A2 | disease | C0268495 | AlteredExpression | 0.01 | disgenet |
| Albinism, oculocutaneous, type 2 | GOLGA6L2 | disease | C0268495 | Biomarker | 0.01 | disgenet |
| Albinism, oculocutaneous, type 2 | GABRB3 | disease | C0268495 | GeneticVariation | 0.01 | disgenet |
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