| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Noonan neurofibromatosis syndrome | NF1 | disease | C2931482 | GeneticVariation | 0.78 | orphanet , disgenet |
| Noonan neurofibromatosis syndrome | NF1 | disease | C2931482 | GermlineCausalMutation | 0.78 | orphanet , disgenet |
| Noonan neurofibromatosis syndrome | NF1 | disease | C2931482 | CausalMutation | 0.78 | orphanet , disgenet |
| Noonan neurofibromatosis syndrome | NF1 | disease | C2931482 | Biomarker | 0.78 | orphanet , disgenet |
| Noonan neurofibromatosis syndrome | MAP2K2 | disease | C2931482 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Noonan neurofibromatosis syndrome | PTPN11 | disease | C2931482 | GeneticVariation | 0.04 | disgenet |
| Noonan neurofibromatosis syndrome | RASA1 | disease | C2931482 | GeneticVariation | 0.01 | disgenet |
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