| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Schwannomatosis | SMARCB1 | disease | C1335929 | GeneticVariation | 0.8 | orphanet , disgenet |
| Schwannomatosis | SMARCB1 | disease | C1335929 | Biomarker | 0.8 | orphanet , disgenet |
| Schwannomatosis | SMARCB1 | disease | C1335929 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Schwannomatosis | SMARCB1 | disease | C1335929 | CausalMutation | 0.8 | orphanet , disgenet |
| Schwannomatosis | SMARCB1 | disease | C1335929 | AlteredExpression | 0.8 | orphanet , disgenet |
| Schwannomatosis | LZTR1 | disease | C1335929 | GeneticVariation | 0.6 | orphanet , disgenet |
| Schwannomatosis | LZTR1 | disease | C1335929 | Biomarker | 0.6 | orphanet , disgenet |
| Schwannomatosis | LZTR1 | disease | C1335929 | SusceptibilityMutation | 0.6 | orphanet , disgenet |
| Schwannomatosis | NF2 | disease | C1335929 | AlteredExpression | 0.58 | orphanet , disgenet |
| Schwannomatosis | NF2 | disease | C1335929 | PosttranslationalModification | 0.58 | orphanet , disgenet |
| Schwannomatosis | NF2 | disease | C1335929 | Biomarker | 0.58 | orphanet , disgenet |
| Schwannomatosis | NF2 | disease | C1335929 | GeneticVariation | 0.58 | orphanet , disgenet |
| Schwannomatosis | COQ6 | disease | C1335929 | GeneticVariation | 0.31 | orphanet , disgenet |
| Schwannomatosis | COQ6 | disease | C1335929 | SusceptibilityMutation | 0.31 | orphanet , disgenet |
| Schwannomatosis | NFIC | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | SMARCE1 | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | TP53 | disease | C1335929 | GeneticVariation | 0.01 | disgenet |
| Schwannomatosis | IKBKG | disease | C1335929 | AlteredExpression | 0.01 | disgenet |
| Schwannomatosis | SMARCA1 | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | CABIN1 | disease | C1335929 | GeneticVariation | 0.01 | disgenet |
| Schwannomatosis | ESCO1 | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | MED16 | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | PRKAR1A | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | NFIX | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | DGCR8 | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | NFIA | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | NFIB | disease | C1335929 | Biomarker | 0.01 | disgenet |
| Schwannomatosis | ETV5 | disease | C1335929 | Biomarker | 0.01 | disgenet |
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