| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| SeSAME syndrome | KCNJ10 | disease | C2748572 | CausalMutation | 1 | orphanet , disgenet |
| SeSAME syndrome | KCNJ10 | disease | C2748572 | Biomarker | 1 | orphanet , disgenet |
| SeSAME syndrome | KCNJ10 | disease | C2748572 | GermlineCausalMutation | 1 | orphanet , disgenet |
| SeSAME syndrome | KCNJ10 | disease | C2748572 | GeneticVariation | 1 | orphanet , disgenet |
| SeSAME syndrome | KCNJ16 | disease | C2748572 | Biomarker | 0.02 | disgenet |
| SeSAME syndrome | KCNJ16 | disease | C2748572 | GeneticVariation | 0.02 | disgenet |
| SeSAME syndrome | SLC12A3 | disease | C2748572 | AlteredExpression | 0.01 | disgenet |
| SeSAME syndrome | KCNC4 | disease | C2748572 | Biomarker | 0.01 | disgenet |
| SeSAME syndrome | HNF1B | disease | C2748572 | GeneticVariation | 0.01 | disgenet |
| SeSAME syndrome | PI4KB | disease | C2748572 | GeneticVariation | 0.01 | disgenet |
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