| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | CCND2 | disease | C1863924 | Biomarker | 0.5 | disgenet |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | CCND2 | disease | C1863924 | GermlineCausalMutation | 0.5 | disgenet |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | AKT3 | disease | C1863924 | GermlineCausalMutation | 0.5 | disgenet |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | PIK3R2 | disease | C1863924 | SomaticCausalMutation | 0.5 | disgenet |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | AKT3 | disease | C1863924 | Biomarker | 0.5 | disgenet |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | PIK3R2 | disease | C1863924 | Biomarker | 0.5 | disgenet |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | PIK3R2 | disease | C1863924 | GermlineCausalMutation | 0.5 | disgenet |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | PIK3CA | disease | C1863924 | Biomarker | 0.3 | disgenet |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | NSD1 | disease | C1863924 | GeneticVariation | 0.01 | disgenet |
| Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | MCC | disease | C1863924 | GeneticVariation | 0.01 | disgenet |
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