| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Simpson-Golabi-Behmel Syndrome, Type 2 | OFD1 | disease | C1846175 | GeneticVariation | 0.64 | disgenet |
| Simpson-Golabi-Behmel Syndrome, Type 2 | OFD1 | disease | C1846175 | Biomarker | 0.64 | disgenet |
| Simpson-Golabi-Behmel Syndrome, Type 2 | OFD1 | disease | C1846175 | CausalMutation | 0.64 | disgenet |
| Simpson-Golabi-Behmel Syndrome, Type 2 | PIGA | disease | C1846175 | GeneticVariation | 0.01 | disgenet |
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