| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Vohwinkel syndrome | GJB2 | disease | C0265964 | Biomarker | 0.8 | orphanet , disgenet |
| Vohwinkel syndrome | GJB2 | disease | C0265964 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Vohwinkel syndrome | GJB2 | disease | C0265964 | GeneticVariation | 0.8 | orphanet , disgenet |
| Vohwinkel syndrome | GJB2 | disease | C0265964 | CausalMutation | 0.8 | orphanet , disgenet |
| Vohwinkel syndrome | LORICRIN | disease | C0265964 | Biomarker | 0.06 | orphanet , disgenet |
| Vohwinkel syndrome | LORICRIN | disease | C0265964 | GeneticVariation | 0.06 | orphanet , disgenet |
| Vohwinkel syndrome | GCLM | disease | C0265964 | Biomarker | 0.01 | disgenet |
| Vohwinkel syndrome | SLC3A2 | disease | C0265964 | AlteredExpression | 0.01 | disgenet |
| Vohwinkel syndrome | LOXL2 | disease | C0265964 | Biomarker | 0.01 | disgenet |
| Vohwinkel syndrome | MVP | disease | C0265964 | Biomarker | 0.01 | disgenet |
| Vohwinkel syndrome | BCL2 | disease | C0265964 | GeneticVariation | 0.01 | disgenet |
| Vohwinkel syndrome | SLC7A5 | disease | C0265964 | AlteredExpression | 0.01 | disgenet |
| Vohwinkel syndrome | GCLC | disease | C0265964 | Biomarker | 0.01 | disgenet |
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