| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Mental retardation-hypotonic facies syndrome, x-linked, 1 | ATRX | disease | C0796003 | GermlineCausalMutation | 0.72 | disgenet |
| Mental retardation-hypotonic facies syndrome, x-linked, 1 | ATRX | disease | C0796003 | GeneticVariation | 0.72 | disgenet |
| Mental retardation-hypotonic facies syndrome, x-linked, 1 | ATRX | disease | C0796003 | CausalMutation | 0.72 | disgenet |
| Mental retardation-hypotonic facies syndrome, x-linked, 1 | ATRX | disease | C0796003 | Biomarker | 0.72 | disgenet |
| Mental retardation-hypotonic facies syndrome, x-linked, 1 | HUWE1 | disease | C0796003 | GeneticVariation | 0.01 | disgenet |
| Mental retardation-hypotonic facies syndrome, x-linked, 1 | ATR | disease | C0796003 | GeneticVariation | 0.01 | disgenet |
| Mental retardation-hypotonic facies syndrome, x-linked, 1 | KRAS | disease | C0796003 | GeneticVariation | 0.01 | disgenet |
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