| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | ACSL4 | disease | C1846242 | ChromosomalRearrangement | 0.51 | disgenet |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | ACSL4 | disease | C1846242 | Biomarker | 0.51 | disgenet |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | AMMECR1 | disease | C1846242 | Biomarker | 0.33 | disgenet |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | AMMECR1 | disease | C1846242 | GermlineCausalMutation | 0.33 | disgenet |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | AMMECR1 | disease | C1846242 | ChromosomalRearrangement | 0.33 | disgenet |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | AMMECR1 | disease | C1846242 | GeneticVariation | 0.33 | disgenet |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | KCNE5 | disease | C1846242 | ChromosomalRearrangement | 0.3 | disgenet |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | AMMEC | disease | C1846242 | Biomarker | 0.01 | disgenet |
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