| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Erythrokeratodermia Variabilis | GJB3 | disease | C0265961 | Biomarker | 0.9 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | GJB3 | disease | C0265961 | GermlineCausalMutation | 0.9 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | GJB3 | disease | C0265961 | GeneticVariation | 0.9 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | GJB4 | disease | C0265961 | GeneticVariation | 0.67 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | GJB4 | disease | C0265961 | Biomarker | 0.67 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | GJB4 | disease | C0265961 | GermlineCausalMutation | 0.67 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | GJA1 | disease | C0265961 | GeneticVariation | 0.33 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | GJA1 | disease | C0265961 | GermlineCausalMutation | 0.33 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | KDSR | disease | C0265961 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | TRPM4 | disease | C0265961 | GeneticVariation | 0.31 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | KDSR | disease | C0265961 | GeneticVariation | 0.31 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | LORICRIN | disease | C0265961 | GeneticVariation | 0.31 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | KRT83 | disease | C0265961 | GeneticVariation | 0.31 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | TRPM4 | disease | C0265961 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | KRT83 | disease | C0265961 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Erythrokeratodermia Variabilis | SMIM12 | disease | C0265961 | GeneticVariation | 0.1 | disgenet |
| Erythrokeratodermia Variabilis | ELOVL4 | disease | C0265961 | GeneticVariation | 0.02 | disgenet |
| Erythrokeratodermia Variabilis | HSPA4 | disease | C0265961 | Biomarker | 0.01 | disgenet |
| Erythrokeratodermia Variabilis | LOXL2 | disease | C0265961 | GeneticVariation | 0.01 | disgenet |
| Erythrokeratodermia Variabilis | FAM111B | disease | C0265961 | Biomarker | 0.01 | disgenet |
| Erythrokeratodermia Variabilis | IL17A | disease | C0265961 | AlteredExpression | 0.01 | disgenet |
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