| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hajdu Cheney Syndrome | NOTCH2 | disease | C0917715 | CausalMutation | 1 | orphanet , disgenet |
| Hajdu Cheney Syndrome | NOTCH2 | disease | C0917715 | GeneticVariation | 1 | orphanet , disgenet |
| Hajdu Cheney Syndrome | NOTCH2 | disease | C0917715 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Hajdu Cheney Syndrome | NOTCH2 | disease | C0917715 | Biomarker | 1 | orphanet , disgenet |
| Hajdu Cheney Syndrome | MMP2 | disease | C0917715 | Biomarker | 0.05 | orphanet , disgenet |
| Hajdu Cheney Syndrome | MMP2 | disease | C0917715 | GeneticVariation | 0.05 | orphanet , disgenet |
| Hajdu Cheney Syndrome | GRAP2 | disease | C0917715 | Biomarker | 0.02 | disgenet |
| Hajdu Cheney Syndrome | FBXW7 | disease | C0917715 | Biomarker | 0.01 | disgenet |
| Hajdu Cheney Syndrome | TNF | disease | C0917715 | GeneticVariation | 0.01 | disgenet |
| Hajdu Cheney Syndrome | NOTCH3 | disease | C0917715 | GeneticVariation | 0.01 | disgenet |
| Hajdu Cheney Syndrome | JAG1 | disease | C0917715 | GeneticVariation | 0.01 | disgenet |
| Hajdu Cheney Syndrome | HPX | disease | C0917715 | GeneticVariation | 0.01 | disgenet |
| Hajdu Cheney Syndrome | MAFB | NA | C0917715 | NA | NA | orphanet |
| Hajdu Cheney Syndrome | MMP14 | NA | C0917715 | NA | NA | orphanet |
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