| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type II | PCNT | disease | C0432246 | CausalMutation | 0.8 | orphanet , disgenet |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type II | PCNT | disease | C0432246 | Biomarker | 0.8 | orphanet , disgenet |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type II | PCNT | disease | C0432246 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type II | PCNT | disease | C0432246 | GeneticVariation | 0.8 | orphanet , disgenet |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type II | CENPE | disease | C0432246 | Biomarker | 0.01 | disgenet |
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