| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Microcephaly with Chorioretinopathy, Autosomal Recessive | TUBGCP4 | disease | C3502492 | Biomarker | 0.6 | disgenet |
| Microcephaly with Chorioretinopathy, Autosomal Recessive | TUBGCP4 | disease | C3502492 | GermlineCausalMutation | 0.6 | disgenet |
| Microcephaly with Chorioretinopathy, Autosomal Recessive | TUBGCP4 | disease | C3502492 | GeneticVariation | 0.6 | disgenet |
| Microcephaly with Chorioretinopathy, Autosomal Recessive | TUBGCP6 | disease | C3502492 | GermlineCausalMutation | 0.5 | disgenet |
| Microcephaly with Chorioretinopathy, Autosomal Recessive | TUBGCP6 | disease | C3502492 | Biomarker | 0.5 | disgenet |
| Microcephaly with Chorioretinopathy, Autosomal Recessive | PLK4 | disease | C3502492 | GermlineCausalMutation | 0.5 | disgenet |
| Microcephaly with Chorioretinopathy, Autosomal Recessive | PLK4 | disease | C3502492 | Biomarker | 0.5 | disgenet |
| Microcephaly with Chorioretinopathy, Autosomal Recessive | TP53BP1 | disease | C3502492 | GeneticVariation | 0.1 | disgenet |
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