| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Microcephaly, Primary Autosomal Recessive, 1 | MCPH1 | disease | C1855081 | CausalMutation | 0.76 | orphanet , disgenet |
| Microcephaly, Primary Autosomal Recessive, 1 | MCPH1 | disease | C1855081 | AlteredExpression | 0.76 | orphanet , disgenet |
| Microcephaly, Primary Autosomal Recessive, 1 | MCPH1 | disease | C1855081 | Biomarker | 0.76 | orphanet , disgenet |
| Microcephaly, Primary Autosomal Recessive, 1 | MCPH1 | disease | C1855081 | GeneticVariation | 0.76 | orphanet , disgenet |
| Microcephaly, Primary Autosomal Recessive, 1 | ANGPT2 | disease | C1855081 | CausalMutation | 0.1 | disgenet |
| Microcephaly, Primary Autosomal Recessive, 1 | CENPJ | disease | C1855081 | CausalMutation | 0.1 | disgenet |
| Microcephaly, Primary Autosomal Recessive, 1 | ASPM | disease | C1855081 | CausalMutation | 0.1 | disgenet |
| Microcephaly, Primary Autosomal Recessive, 1 | MCPH1-AS1 | disease | C1855081 | CausalMutation | 0.1 | disgenet |
| Microcephaly, Primary Autosomal Recessive, 1 | SDHD | disease | C1855081 | GeneticVariation | 0.02 | disgenet |
| Microcephaly, Primary Autosomal Recessive, 1 | SDHB | disease | C1855081 | GeneticVariation | 0.01 | disgenet |
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