| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Encephalocraniocutaneous lipomatosis | FGFR1 | disease | C0406612 | GeneticVariation | 0.74 | orphanet , disgenet |
| Encephalocraniocutaneous lipomatosis | FGFR1 | disease | C0406612 | SomaticCausalMutation | 0.74 | orphanet , disgenet |
| Encephalocraniocutaneous lipomatosis | FGFR1 | disease | C0406612 | AlteredExpression | 0.74 | orphanet , disgenet |
| Encephalocraniocutaneous lipomatosis | FGFR1 | disease | C0406612 | Biomarker | 0.74 | orphanet , disgenet |
| Encephalocraniocutaneous lipomatosis | FGFR1 | disease | C0406612 | CausalMutation | 0.74 | orphanet , disgenet |
| Encephalocraniocutaneous lipomatosis | KRAS | disease | C0406612 | GeneticVariation | 0.31 | orphanet , disgenet |
| Encephalocraniocutaneous lipomatosis | NF1 | disease | C0406612 | GeneticVariation | 0.01 | disgenet |
| Encephalocraniocutaneous lipomatosis | FRS2 | disease | C0406612 | AlteredExpression | 0.01 | disgenet |
| Encephalocraniocutaneous lipomatosis | IKBKG | disease | C0406612 | AlteredExpression | 0.01 | disgenet |
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