| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Macular dystrophy, retinal, 1, North Carolina type | DHS6S1 | disease | C0730294 | Biomarker | 0.5 | orphanet , disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | DHS6S1 | disease | C0730294 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | MCDR1 | disease | C0730294 | Biomarker | 0.08 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | MCDR1 | disease | C0730294 | GeneticVariation | 0.08 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | PRDM13 | disease | C0730294 | GeneticVariation | 0.03 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | PRDM13 | disease | C0730294 | AlteredExpression | 0.03 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | IRX1 | disease | C0730294 | GeneticVariation | 0.02 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | MCDR3 | disease | C0730294 | GeneticVariation | 0.02 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | IRX1 | disease | C0730294 | Biomarker | 0.02 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | CCNC | disease | C0730294 | GeneticVariation | 0.01 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | DNASE1 | disease | C0730294 | GeneticVariation | 0.01 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | ERG | disease | C0730294 | Biomarker | 0.01 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | IMPG1 | disease | C0730294 | GeneticVariation | 0.01 | disgenet |
| Macular dystrophy, retinal, 1, North Carolina type | ABCA4 | disease | C0730294 | GeneticVariation | 0.01 | disgenet |
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