| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Jervell Lange Nielsen Syndrome | KCNQ1 | disease | C0022387 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Jervell Lange Nielsen Syndrome | KCNQ1 | disease | C0022387 | CausalMutation | 1 | orphanet , disgenet |
| Jervell Lange Nielsen Syndrome | KCNQ1 | disease | C0022387 | Biomarker | 1 | orphanet , disgenet |
| Jervell Lange Nielsen Syndrome | KCNQ1 | disease | C0022387 | GeneticVariation | 1 | orphanet , disgenet |
| Jervell Lange Nielsen Syndrome | KCNE1 | disease | C0022387 | GeneticVariation | 0.7 | orphanet , disgenet |
| Jervell Lange Nielsen Syndrome | KCNE1 | disease | C0022387 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Jervell Lange Nielsen Syndrome | KCNE1 | disease | C0022387 | Biomarker | 0.7 | orphanet , disgenet |
| Jervell Lange Nielsen Syndrome | KCNE1B | disease | C0022387 | Biomarker | 0.2 | disgenet |
| Jervell Lange Nielsen Syndrome | RWS | disease | C0022387 | GeneticVariation | 0.03 | disgenet |
| Jervell Lange Nielsen Syndrome | RWS | disease | C0022387 | Biomarker | 0.03 | disgenet |
| Jervell Lange Nielsen Syndrome | GAST | disease | C0022387 | AlteredExpression | 0.02 | disgenet |
| Jervell Lange Nielsen Syndrome | GAST | disease | C0022387 | GeneticVariation | 0.02 | disgenet |
| Jervell Lange Nielsen Syndrome | KCNH2 | disease | C0022387 | Biomarker | 0.02 | disgenet |
| Jervell Lange Nielsen Syndrome | SCN5A | disease | C0022387 | Biomarker | 0.01 | disgenet |
| Jervell Lange Nielsen Syndrome | KCNQ4 | disease | C0022387 | GeneticVariation | 0.01 | disgenet |
| Jervell Lange Nielsen Syndrome | NT5E | disease | C0022387 | Biomarker | 0.01 | disgenet |
| Jervell Lange Nielsen Syndrome | KCNE2 | disease | C0022387 | Biomarker | 0.01 | disgenet |
| Jervell Lange Nielsen Syndrome | HFE | disease | C0022387 | GeneticVariation | 0.01 | disgenet |
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