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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