| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Chromosome 17q21.31 Deletion Syndrome | KANSL1 | disease | C1864871 | GeneticVariation | 0.75 | orphanet , disgenet |
| Chromosome 17q21.31 Deletion Syndrome | KANSL1 | disease | C1864871 | CausalMutation | 0.75 | orphanet , disgenet |
| Chromosome 17q21.31 Deletion Syndrome | KANSL1 | disease | C1864871 | Biomarker | 0.75 | orphanet , disgenet |
| Chromosome 17q21.31 Deletion Syndrome | KANSL1 | disease | C1864871 | ChromosomalRearrangement | 0.75 | orphanet , disgenet |
| Chromosome 17q21.31 Deletion Syndrome | OTX2 | disease | C1864871 | GeneticVariation | 0.01 | disgenet |
| Chromosome 17q21.31 Deletion Syndrome | HTC2 | disease | C1864871 | Biomarker | 0.01 | disgenet |
| Chromosome 17q21.31 Deletion Syndrome | USH2A | disease | C1864871 | GeneticVariation | 0.01 | disgenet |
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