| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Macrocephaly Autism Syndrome | PTEN | disease | C1854416 | Biomarker | 0.91 | orphanet , disgenet |
| Macrocephaly Autism Syndrome | PTEN | disease | C1854416 | GermlineCausalMutation | 0.91 | orphanet , disgenet |
| Macrocephaly Autism Syndrome | PTEN | disease | C1854416 | GeneticVariation | 0.91 | orphanet , disgenet |
| Macrocephaly Autism Syndrome | PTEN | disease | C1854416 | CausalMutation | 0.91 | orphanet , disgenet |
| Macrocephaly Autism Syndrome | HEPACAM | disease | C1854416 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
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